Brachydactyly-elbow wrist dysplasia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Brachydactyly-elbow wrist dysplasia syndrome

Synonyms: Brachydactyly-joint dysplasia syndrome | Liebenberg syndrome

Brachydactyly-elbow wrist dysplasia syndrome is a rare genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint abnormally shaped carpal bones wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

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 Data version February 2024

Newly diagnosed with
Brachydactyly-elbow wrist dysplasia syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.