Contractures-developmental delay-Pierre Robin syndrome

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Contractures-developmental delay-Pierre Robin syndrome

Synonyms: 5q23 microdeletion syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus arachnodactyly radioulnar synostosis severe hip dysplasia cardiac anomalies facial dysmorphism such as crumpled ear helices and ocular abnormalities among others.

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 March 2024

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