ORPHA:1147
Sheldon-Hall syndrome
Also called DA2B, Distal arthrogryposis multiplex congenita type 2B, Distal arthrogryposis type 2B, Freeman-Sheldon syndrome variant, SSH
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant, Not applicable
- Typical age of onset
- Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:1147 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Webbed neck
- Adducted thumb
- Joint stiffness
- Scoliosis
- Aplasia/Hypoplasia of the radius
- Bilateral single transverse palmar creases