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Ulnar hypoplasia - split foot

ORPHA1122
Synonym(s) Ulnar hypoplasia - lobster-claw deformity of feet
Van den Berghe-Dequecker syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q73.8
OMIM
UMLS
  • C1839123
MeSH
  • C536936
MedDRA -

Summary

This 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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