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Autosomal dominant Robinow syndrome

Orpha number ORPHA3107
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

About 100 cases of this type have been reported in the literature to date.

The clinical signs are generally milder in dominant cases of RS than in the AR form. In the presence of rib fusions, the recessive form of the syndrome should be considered.

Mutations in WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome.

Transmission is autosomal dominant.

Expert reviewer(s)

  • Dr Juliana MAZZEU

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