ORPHA:2053
Freeman-Sheldon syndrome
Also called Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, Distal arthrogryposis type 2A, Freeman-Burian syndrome, Whistling face syndrome
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant, Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2053 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Ulnar deviation of finger
- Chin dimple
- Camptodactyly of finger
- Narrow mouth
- Abnormality of the dentition
- Hypertelorism