SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719256004
http://purl.bioontology.org/ontology/SNOMEDCT/719256004
Preferred Name

Pterygium colli with intellectual disability and digital anomaly syndrome

Definitions
This syndrome has characteristics of pterygium colli, digital anomalies and craniofacial abnormalities. Digital anomalies include abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges. Craniofacial abnormalities include brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, prominent low-set and posteriorly rotated ears. It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
Synonyms
Khalifa Graham syndrome
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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