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Karsch-Neugebauer syndrome

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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

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 Français (2010) Español (2010) Nederlands (2010)
Additional information
The documents contained in this website 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.