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Karsch-Neugebauer syndrome

Disease definition

Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.

ORPHA:2329

Classification level: Disorder
  • Synonym(s):
    • Split hand/split foot-nystagmus syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 183800
  • UMLS: C1866740
  • MeSH: C537319
  • GARD: 4967
  • MedDRA: -

Summary

Epidemiology

Ten cases from four families have been reported in the literature.

Clinical description

In some cases the hands are monodactylous. The affected patients have normal mental development.

Genetic counseling

The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.

- Last update: September 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.