Cerebrofacioarticular syndrome

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Synonyms: Van Maldergem syndrome

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability a distinctive facial gestalt (blepharophimosis maxillary hypoplasia telecanthus microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers cutaneous syndactyly talipes equinovarus flexion contractures of the proximal interphalangeal joints hip or elbow subluxation joint laxity). Affected individuals also present neonatal hypotonia variable respiratory manifestations chronic feeding difficulties and gray matter heterotopia.

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 May 2024

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