Ulnar hypoplasia-split foot syndrome
ORPHA:1122· ICD-10 Q73.8
Definition
A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal