Orphanet: Ulnar hypoplasia split foot syndrome
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Ulnar hypoplasia-split foot syndrome

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.

ORPHA:1122

Classification level: Disorder
  • 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
  • ICD-10: Q73.8
  • OMIM: 314360
  • UMLS: C1839123
  • MeSH: C536936
  • GARD: 5400
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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