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 April 2024
Newly diagnosed with
Distal arthrogryposis type 5D?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.