Distal arthrogryposis type 5D

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Distal arthrogryposis type 5D

Synonyms: DA5D | Distal arthrogryposis type 5 without ophthalmoparesis | Distal arthrogryposis type 5 without ophthalmoplegia

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands feet ankle shoulders and/or neck with camptodactyly of the fingers and limited knee and hip extension associated with asymmetric ptosis and less frequently other ocular manifestations (e.g. ophthalmoplegia strabismus). Affected individuals frequently have a bulbous nose furrowed tongue micro/retrognathia a short neck congenital hip dislocation club feet scoliosis and short stature.

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 September 2023.

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Distal arthrogryposis type 5D?

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