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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