{"Name":"Beckwith-Wiedemann syndrome","DiseaseID__c":"GARD:0003343","id":3343,"encodedName":"beckwith-wiedemann-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Beckwith-Wiedemann syndrome","Xref_IDs__c":"81780002; C0004903; C34415; D001506; DOID:5572; MEDGEN:2562; MONDO:0007534; NBK1394; OMIM:130650; ORPHA:116","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007534","Disease_Description__c":"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.","GARD_Name__c":"Beckwith-Wiedemann syndrome","GARD_Synonym__c":"beckwith's syndrome; bws; emg syndrome; exomphalos macroglossia gigantism syndrome; exomphalos-macroglossia-gigantism syndrome; wiedemann-beckwith syndrome","Curated_Disease_Description_Source__c":"GARD:0003343","Curated_Disease_Description__c":"Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific body parts may grow abnormally large on one side of the body, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood glucose (hypoglycemia) in infancy, and kidney abnormalities. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma.  Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:116","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007534","ORPHANET_ID__c":"ORPHA:116","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de beckwith-wiedemann","Spanish_Description_Source__c":"ORPHA:116","Spanish_Description__c":"El síndrome de Beckwith-Wiedemann (SBW) es un trastorno genético caracterizado por sobrecrecimiento, predisposición tumoral y malformaciones congénitas.","Spanish_Disease_Name__c":"síndrome de beckwith-wiedemann","Spanish_GARD_Synonym__c":"onfalocele-macroglosia-gigantismo; sbw; síndrome de wiedemann-beckwith","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific body parts may grow abnormally large on one side of the body, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood glucose (hypoglycemia) in infancy, and kidney abnormalities. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma.  Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.","Curated_Disease_Description_Source__c":"GARD:0003343","GARD_Synonym__c":"beckwith's syndrome; bws; emg syndrome; exomphalos macroglossia gigantism syndrome; exomphalos-macroglossia-gigantism syndrome; wiedemann-beckwith syndrome","Name":"Beckwith-Wiedemann syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"myFace","Website__c":"https://www.myface.org/"},{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Congenital Hyperinsulinism International","Website__c":"https://congenitalhi.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Española del Síndrome de Beckwith-Wiedemann","Website__c":"https://asebewi.wordpress.com/"},{"Account_Name__c":"Beckwith-Wiedemann Children's Foundation International","Website__c":"https://www.beckwithwiedemann.org/"},{"Account_Name__c":"Hypertrophic Cardiomyopathy Association","Website__c":"https://www.4hcm.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:116"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:116"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0004903"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1394","Source__c":"Gene Review","Xref__c":"NBK1394"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001506","Source__c":"C0004903; MONDO:0007534","Xref__c":"D001506"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2562","Source__c":"C0004903","Xref__c":"MEDGEN:2562"},{"URL__c":"https://www.orpha.net/en/disease/detail/116","Source__c":"C0004903; MONDO:0007534; ORPHA:116","Xref__c":"ORPHA:116"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81780002","Source__c":"C0004903; MONDO:0007534","Xref__c":"81780002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0004903","Source__c":"C0004903","Xref__c":"C0004903"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34415","Source__c":"C0004903; MONDO:0007534","Xref__c":"C34415"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5572","Source__c":"MONDO:0007534","Xref__c":"DOID:5572"},{"URL__c":"https://www.omim.org/entry/130650","Source__c":"C0004903; MONDO:0007534; ORPHA:116","Xref__c":"OMIM:130650"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007534","Source__c":"GARD:0003343","Xref__c":"MONDO:0007534"},{"URL__c":"https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome","Source__c":"GARD:0003343","Xref__c":"https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNQ1OT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq1ot1","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true},{"GeneSymbol__c":"CDKN1C","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdkn1c","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IGF2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/igf2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNQ1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length of the umbilical cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011417","HPO_Synonym__c":"Long umbilical cord","HPO_Name__c":"Long umbilical cord","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the viscera of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003271","HPO_Name__c":"Visceromegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008523","HPO_Synonym__c":"Ear, posterior helical groove; Ear, posterior helical notch; Helix, posterior pit; Indentation in back of outer ear; Pits in posterior aspect of ear helices","HPO_Name__c":"Posterior helix pit","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental disturbance with extreme ureteral dilatation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008676","HPO_Synonym__c":"Congenital megaloureter; Primary megaloureter; Primary megaureter","HPO_Name__c":"Congenital megaureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000150","HPO_Name__c":"Gonadoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030255","HPO_Name__c":"Large intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012090","HPO_Synonym__c":"Abnormality of pancreas morphology; Abnormally shaped pancreas","HPO_Name__c":"Abnormal pancreas morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the lobule of pinna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000363","HPO_Synonym__c":"Abnormal earlobe; Abnormal lobe of ear; Abnormality of auricular lobule; Abnormality of ear lobe; Abnormality of earlobe; Abnormality of lobulus auriculae","HPO_Name__c":"Abnormal earlobe morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008186","HPO_Name__c":"Adrenocortical cytomegaly","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009908","HPO_Synonym__c":"Earlobe crease; Transverse earlobe creases","HPO_Name__c":"Anterior creases of earlobe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002884","HPO_Name__c":"Hepatoblastoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000219","HPO_Synonym__c":"Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip","HPO_Name__c":"Thin upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loose and sagging skin often associated with loss of skin elasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001582","HPO_Synonym__c":"Loose redundant skin; Redundant skin folds; Sagging, redundant skin","HPO_Name__c":"Redundant skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased convexity of the occiput (posterior part of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000269","HPO_Synonym__c":"Prominent back of the skull; Prominent posterior cranium; Prominent posterior skull; Protruding occiput","HPO_Name__c":"Prominent occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A transverse linear fissure (crease) in the lobule of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031510","HPO_Name__c":"Linear earlobe crease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001052","HPO_Synonym__c":"Nevus simplex; port-wine stain","HPO_Name__c":"Nevus flammeus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000239","HPO_Synonym__c":"Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles","HPO_Name__c":"Large fontanelles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100243","HPO_Name__c":"Leiomyosarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the medulla of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008659","HPO_Name__c":"Multiple small medullary renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001540","HPO_Synonym__c":"Gap between large left and right abdominal muscles","HPO_Name__c":"Diastasis recti","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000362","HPO_Name__c":"Otosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100876","HPO_Synonym__c":"Crease in skin under the eye; Groove in skin under the eye; Infraorbital crease; Infraorbital creases; Underorbital skin creases","HPO_Name__c":"Infra-orbital crease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a fistula affecting the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100589","HPO_Name__c":"Urogenital fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004464","HPO_Synonym__c":"Pit behind the ear; Postauricular earpits; Postauricular fistula; Posterior auricular pit; Posterior auricular sinus","HPO_Name__c":"Postauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Well-defined, pale patches in the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001139","HPO_Name__c":"Chorioretinal scalloped atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000309","HPO_Synonym__c":"Abnormal morphology of the midface; Abnormality of the midface; Anomaly of the midface","HPO_Name__c":"Abnormal midface morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003006","HPO_Synonym__c":"Cancer of early nerve cells","HPO_Name__c":"Neuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000073","HPO_Synonym__c":"Double ureter","HPO_Name__c":"Ureteral duplication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002308","HPO_Synonym__c":"Arnold-Chiari malformation; Cerebellar tonsillar ectopia","HPO_Name__c":"Chiari malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000842","HPO_Synonym__c":"Elevated insulin level","HPO_Name__c":"Hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A growth pattern that displays an abnormal difference between the left and the right side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100555","HPO_Synonym__c":"Uneven or disproportionate growth of one body part compared to another","HPO_Name__c":"Asymmetric growth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006744","HPO_Synonym__c":"Adrenal carcinoma; Adrenal gland carinoma","HPO_Name__c":"Adrenocortical carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006254","HPO_Synonym__c":"Increased levels of alpha fetoprotein; Increased serum alpha-fetoprotein; Serum alpha-fetoprotein increased","HPO_Name__c":"Elevated circulating alpha-fetoprotein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000329","HPO_Synonym__c":"Facial hemangiomata","HPO_Name__c":"Facial hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005562","HPO_Synonym__c":"Multiple kidney cysts","HPO_Name__c":"Multiple renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001528","HPO_Synonym__c":"Asymmetric limb hypertrophy; Asymmetric overgrowth","HPO_Name__c":"Hemihypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001738","HPO_Synonym__c":"Inability to properly digest food due to lack of pancreatic digestive enzymes","HPO_Name__c":"Exocrine pancreatic insufficiency","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001901","HPO_Synonym__c":"Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia","HPO_Name__c":"Polycythemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002859","HPO_Name__c":"Rhabdomyosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement of the anterior fontanelle with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000260","HPO_Synonym__c":"Large anterior fontanel; Large anterior fontanelle; Large open anterior fontanel; Large open anterior fontanelle; Wide anterior fontanelle; Wide open anterior fontanelle; Wider-than-typical soft spot of skull","HPO_Name__c":"Wide anterior fontanel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001520","HPO_Synonym__c":"Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Macrosomia; Macrosomia, neonatal","HPO_Name__c":"Large for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Vertical bony ridge positioned in the midline of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005487","HPO_Synonym__c":"Prominent frontal ridge; Prominent metopic suture; Ridging of metopic suture","HPO_Name__c":"Prominent metopic ridge","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000852","HPO_Name__c":"Pseudohypoparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cyst on the surface of the placenta consisting of amnion and chorion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030720","HPO_Name__c":"Subchorionic septal cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010535","HPO_Synonym__c":"Pauses in breathing while sleeping; Sleep apnea; Sleep apnoea","HPO_Name__c":"Sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the size of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000105","HPO_Synonym__c":"Enlarged kidney; Large kidneys; Nephromegaly; Renal enlargement","HPO_Name__c":"Enlarged kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000154","HPO_Synonym__c":"Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth","HPO_Name__c":"Wide mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the placenta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006267","HPO_Synonym__c":"Large placenta; Placental enlargement","HPO_Name__c":"Large placenta","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:116","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Cardiology","Nephrology","Endocrine","Otolaryngology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Account":["Nephrology","Craniofacial Anomalies","Cardiomyopathy"]},"synonyms":["beckwith's syndrome"," bws"," emg syndrome"," exomphalos macroglossia gigantism syndrome"," exomphalos-macroglossia-gigantism syndrome"," wiedemann-beckwith syndrome"],"spanishId":12270,"spanishName":"sindrome-de-beckwith-wiedemann"}