{"Name":"Craniofacial conodysplasia","DiseaseID__c":"GARD:0019049","id":19049,"encodedName":"craniofacial-conodysplasia","IsDeleted":false,"Disease_Name_Full__c":"Craniofacial conodysplasia","Xref_IDs__c":"C4303862; MEDGEN:929531; MONDO:0019406; ORPHA:85168","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019406","Disease_Description__c":"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.","GARD_Name__c":"Craniofacial conodysplasia","GARD_Synonym__c":"craniofacial conodysplasia syndrome","Curated_Disease_Description_Source__c":"ORPHA:85168","Curated_Disease_Description__c":"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. The syndrome appeared to be transmitted as a dominant trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:85168","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019406","ORPHANET_ID__c":"ORPHA:85168","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Conodisplasia craneofacial","Spanish_Description_Source__c":"ORPHA:85168","Spanish_Description__c":"Es un trastorno caracterizado por displasia craneofacial, con epífisis en forma de cono en las manos y los pies y manifestaciones neurológicas que se asemejan a la parálisis cerebral. Se ha descrito en una familia. El síndrome parecía transmitirse como un rasgo dominante.","Spanish_Disease_Name__c":"conodisplasia craneofacial","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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":"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. The syndrome appeared to be transmitted as a dominant trait.","Curated_Disease_Description_Source__c":"ORPHA:85168","GARD_Synonym__c":"craniofacial conodysplasia syndrome","Name":"Craniofacial conodysplasia","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:85168"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303862","Source__c":"C4303862","Xref__c":"C4303862"},{"URL__c":"https://www.orpha.net/en/disease/detail/85168","Source__c":"C4303862; MONDO:0019406; ORPHA:85168","Xref__c":"ORPHA:85168"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929531","Source__c":"C4303862","Xref__c":"MEDGEN:929531"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019406","Source__c":"GARD:0019049","Xref__c":"MONDO:0019406"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720754008","Source__c":"C4303862","Xref__c":"720754008"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010230","HPO_Synonym__c":"Cone-shaped end part of finger bones; Cone-shaped epiphyses of hand; Cone-shaped epiphyses of the fingers; Coned epiphyses of hands; Conical phalangeal epiphyses","HPO_Name__c":"Cone-shaped epiphyses of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A characteristic appearance resulting from defective ossification of craniofacial bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004439","HPO_Synonym__c":"Crouzon syndrome","HPO_Name__c":"Craniofacial dysostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["craniofacial conodysplasia syndrome"]}