{"Name":"Acrocephalopolydactyly","DiseaseID__c":"GARD:0002096","id":2096,"encodedName":"acrocephalopolydactyly","IsDeleted":false,"Disease_Name_Full__c":"Acrocephalopolydactyly","Xref_IDs__c":"720417003; C3495588; C573722; MEDGEN:501209; MONDO:0008709; OMIM:200995; ORPHA:221054","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008709","Disease_Description__c":"An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.","GARD_Name__c":"Acrocephalopolydactyly","GARD_Synonym__c":"acrocephalopolydactylous dysplasia; elejalde syndrome","Curated_Disease_Description_Source__c":"MONDO:0008709","Curated_Disease_Description__c":"An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:221054","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008709","ORPHANET_ID__c":"ORPHA:221054","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acrocefalopolidactilia","Spanish_Description_Source__c":"ORPHA:221054","Spanish_Description__c":"Es un trastorno letal autosómico recesivo muy poco frecuente caracterizado por exceso de peso al nacer, hinchazón globulosa del cuerpo, edema generalizado, extremidades cortas, polidactilia postaxial, piel gruesa, dismorfia facial, (fisuras palpebrales inclinadas, hipertelorismo, pliegues epicánticos y orejas displásicas), exceso de tejido conectivo, displasia renal y, en algunos afectados, organomegalia, craneosinostosis con acrocefalia, onfalocele, paladar hendido y criptorquidia. Hasta la fecha se han descrito menos de 10 casos en la literatura.","Spanish_Disease_Name__c":"acrocefalopolidactilia","Spanish_GARD_Synonym__c":"acrocefalopolidactilia de elejalde; displasia acrocefalodactílica; displasia acrocefalopolidactílica","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":"An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.","Curated_Disease_Description_Source__c":"MONDO:0008709","GARD_Synonym__c":"acrocephalopolydactylous dysplasia; elejalde syndrome","Name":"Acrocephalopolydactyly","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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:221054"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:221054"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720417003","Source__c":"C3495588; MONDO:0008709","Xref__c":"720417003"},{"URL__c":"https://www.omim.org/entry/200995","Source__c":"C3495588; MONDO:0008709; ORPHA:221054","Xref__c":"OMIM:200995"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C573722","Source__c":"MONDO:0008709","Xref__c":"C573722"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3495588","Source__c":"C3495588","Xref__c":"C3495588"},{"URL__c":"https://www.orpha.net/en/disease/detail/221054","Source__c":"C3495588; MONDO:0008709; ORPHA:221054","Xref__c":"ORPHA:221054"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501209","Source__c":"C3495588","Xref__c":"MEDGEN:501209"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008709","Source__c":"GARD:0002096","Xref__c":"MONDO:0008709"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005458","HPO_Synonym__c":"Early closure of the fontanelles; Obliterated fontanelles; Premature fontanel closure","HPO_Name__c":"Premature closure of fontanelles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000153","HPO_Synonym__c":"Abnormal mouth; Abnormality of the mouth","HPO_Name__c":"Abnormality of the mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A thrusting or bulging out of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001538","HPO_Synonym__c":"Abdominal protuberance; Belly sticks out; Extended belly","HPO_Name__c":"Protuberant abdomen","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005257","HPO_Synonym__c":"Small chest; Small thorax","HPO_Name__c":"Thoracic hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012210","HPO_Synonym__c":"Abnormal kidney morphology; Abnormally shaped kidney; Kidney malformation; Kidney structure issue; Renal malformation; Structural anomalies of the renal tract; Structural kidney abnormalities; Structural renal anomalies","HPO_Name__c":"Abnormal renal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased extension of the knee joint, so that the knee can bend backwards.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002816","HPO_Synonym__c":"Back knee; Genu recurvata; Knee hyperextension","HPO_Name__c":"Genu recurvatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000234","HPO_Synonym__c":"Abnormal head; Abnormality of the head; Head abnormality","HPO_Name__c":"Abnormality of the head","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cystic lymphatic lesion of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000476","HPO_Synonym__c":"Cystic hygroma of the neck","HPO_Name__c":"Cystic hygroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000263","HPO_Name__c":"Oxycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["acrocephalopolydactylous dysplasia"," elejalde syndrome"]}