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Ulnar hypoplasia-split foot syndrome

Synonym(s) Ulnar hypoplasia-lobster-claw deformity of feet syndrome
Van den Berghe-Dequecker syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
  • Q73.8
  • C1839123
  • C536936
MedDRA -


Disease definition

Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.

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