{"Name":"Matthew-Wood syndrome","DiseaseID__c":"GARD:0000713","id":713,"encodedName":"matthew-wood-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Matthew-Wood syndrome","Xref_IDs__c":"722458000; C1832661; C537768; DOID:0111807; MEDGEN:318679; MONDO:0011010; OMIM:601186; ORPHA:2470","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011010","Disease_Description__c":"A rare, genetic congenital malformation syndrome characterized by bilateral anopthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.","GARD_Name__c":"Matthew-Wood syndrome","GARD_Synonym__c":"anophthalmia with pulmonary hypoplasia syndrome; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm; anophthalmia/microphthalmia and pulmonary hypoplasia; matthew wood syndrome; mcops9; microphthalmia syndromic type 9; microphthalmia, syndromic type 9; pdac syndrome; pulmonary agenesis, microphthalmia, and diaphragmatic defect; pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; spear syndrome; syndromic microphthalmia type 9","Curated_Disease_Description_Source__c":"MONDO:0011010","Curated_Disease_Description__c":"A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2470","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011010","ORPHANET_ID__c":"ORPHA:2470","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de matthew-wood","Spanish_Description_Source__c":"ORPHA:2470","Spanish_Description__c":"Es un síndrome poco frecuente de malformaciones congénitas de origen genético caracterizado por anoftalmia bilateral (o menos comúnmente microftalmia) en asociación con una combinación variable de hipoplasia o agenesia pulmonar, hernia o eventración diafragmática congénita y defectos cardiovasculares diversos (anomalías cardíacas congénitas y/o atresia pulmonar). Los pacientes que sobreviven manifiestan discapacidad intelectual. También se han descrito otras malformaciones variables que afectan a diferentes sistemas orgánicos, así como dismorfia facial.","Spanish_Disease_Name__c":"síndrome de matthew-wood","Spanish_GARD_Synonym__c":"síndrome de anoftalmia-hipoplasia pulmonar; síndrome de hipoplasia pulmonar-hernia diafragmática-anoftalmia-defecto cardíaco","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":"A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.","Curated_Disease_Description_Source__c":"MONDO:0011010","GARD_Synonym__c":"anophthalmia with pulmonary hypoplasia syndrome; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm; anophthalmia/microphthalmia and pulmonary hypoplasia; matthew wood syndrome; mcops9; microphthalmia syndromic type 9; microphthalmia, syndromic type 9; pdac syndrome; pulmonary agenesis, microphthalmia, and diaphragmatic defect; pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; spear syndrome; syndromic microphthalmia type 9","Name":"Matthew-Wood syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2470"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2470"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832661"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000713","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722458000","Source__c":"C1832661; MONDO:0011010","Xref__c":"722458000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318679","Source__c":"C1832661","Xref__c":"MEDGEN:318679"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111807","Source__c":"MONDO:0011010","Xref__c":"DOID:0111807"},{"URL__c":"https://www.orpha.net/en/disease/detail/2470","Source__c":"C1832661; MONDO:0011010; ORPHA:2470","Xref__c":"ORPHA:2470"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537768","Source__c":"MONDO:0011010","Xref__c":"C537768"},{"URL__c":"https://www.omim.org/entry/601186","Source__c":"C1832661; MONDO:0011010; ORPHA:2470","Xref__c":"OMIM:601186"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832661","Source__c":"C1832661","Xref__c":"C1832661"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011010","Source__c":"GARD:0000713","Xref__c":"MONDO:0011010"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"STRA6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2470","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:2470","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100800","HPO_Synonym__c":"Absent/small pancreas; Absent/underdeveloped pancreas","HPO_Name__c":"Aplasia/Hypoplasia of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001734","HPO_Name__c":"Annular pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002088","HPO_Synonym__c":"Abnormality of lung structure; Abnormality of the lungs; Abnormally shaped lung; Unusual lung shape","HPO_Name__c":"Abnormal lung morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025408","HPO_Name__c":"Abnormal spleen morphology","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","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:2470","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","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:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The narrowing or partial blockage of a portion of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100867","HPO_Synonym__c":"Duodenal stenosis/atresia","HPO_Name__c":"Duodenal stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000130","HPO_Synonym__c":"Abnormality of the uterus; Uterine abnormalities; Uterine malformations","HPO_Name__c":"Abnormality of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2470","HPO_Frequency__c":"Frequent (30-79%)","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:2470","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the globe or eyeball.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000528","HPO_Synonym__c":"Absence of eyeballs; Absence of globes of eyes; Anophthalmia, clinical; Clinical anophthalmia, unilateral/bilateral; Failure of development of eyeball; Missing eyeball; Missing globe of eye; No eyeball; No globe of eye; Ocular absence","HPO_Name__c":"Anophthalmia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Neurology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Pulmonology","Neurology","Ophthalmology","Gastroenterology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["anophthalmia with pulmonary hypoplasia syndrome"," anophthalmia-pulmonary hypoplasia syndrome"," anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm"," anophthalmia/microphthalmia and pulmonary hypoplasia"," matthew wood syndrome"," mcops9"," microphthalmia syndromic type 9"," microphthalmia, syndromic type 9"," pdac syndrome"," pulmonary agenesis, microphthalmia, and diaphragmatic defect"," pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome"," spear syndrome"," syndromic microphthalmia type 9"]}