Pterygium colli-intellectual disability-digital anomalies syndrome

Orpha code: 2988OMIM code: 600159

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Khalifa-Graham syndrome
Zespół Khalifa i Grahama
ORPHA code
2988
OMIM code
600159
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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