pterygium colli-intellectual disability-digital anomalies syndrome

Rare Disease

MONDO:0010835

Also Known As

khalifa-Graham syndromepterygium colli and intellectual disability with facial and digital anomaliespterygium colli and mental retardation with facial and digital anomaliespterygium colli intellectual disability digital anomaliespterygium colli mental retardation digital anomalies

Definition

Pterygium colli-intellectual disability-digital anomalies syndrome is 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.