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Split hand - urinary anomalies - spina bifida

Orpha number ORPHA2437
Synonym(s) Czeizel-Losonci syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

The association of hydronephrosis due to obstructive uropathy and syndactyly of hands and feet was described in a mother and her two sons, as well as in another unrelated patient. Hands and feet anomalies were either split and/foot or syndactyly, with or without limb deficiency. Hydronephrosis was due in two cases to ureteral atresia and in one case to megaloureter. Other major anomalies were observed like spina bifida aperta (2 cases) or occulta (1 case), or diaphragmatic hernia (2 cases). The transmission pattern suggests autosomal dominant inheritance with variable expressivity.

Expert reviewer(s)

  • Dr Emmanuelle PROUST-LEMOINE

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