Pterygium colli-intellectual disability-digital anomalies syndrome

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Synonyms: Khalifa-Graham syndrome

A rare disorder characterized by pterygium colli digital anomalies (abnormal small thumbs widened interphalangeal joints and broad terminal phalanges) and craniofacial abnormalities (brachycephaly epicanthic folds angulated eyebrows upward slanting of the palpebral fissures ptosis hypertelorism and prominent low-set 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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