Sheldon-Hall syndrome
ORPHA:1147· ICD-10 Q68.8
Definition
A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal