Autosomal dominant multiple pterygium syndrome

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Autosomal dominant multiple pterygium syndrome

Synonyms: Distal arthrogryposis type 8

A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck axilla and popliteal areas) joint contractures ptosis camptodactyly of the hands with hypoplastic flexion creases vertebral fusions severe 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: // Data version September 2023.

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Autosomal dominant multiple pterygium syndrome?

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