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Holoprosencephaly-radial heart renal anomalies syndrome

ORPHA3186
Synonym(s) Steinfeld syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.

Epidemiology

It has been described in two families (with at least seven affected persons).

Clinical description

Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.

Genetic counseling

Inheritance is likely to be autosomal dominant with variable expressivity.

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