ORPHA:1856
Spondyloperipheral dysplasia-short ulna syndrome
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1856 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Cleft palate
- Hearing impairment
- Myopia
- Abnormality of the hip joint
- Hypoplasia of the ulna
- Flattened epiphysis