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Pterygium colli-intellectual disability-digital anomalies 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.
ORPHA:2988
Classification level: Disorder
- Khalifa-Graham syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant, X-linked dominant
Age of onset: Neonatal
ICD-10: Q87.0
OMIM: 600159
UMLS: C1838562
MeSH: C535831
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