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Autosomal dominant Robinow syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • Q87.1
MeSH -
MedDRA -


Disease definition

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.

Clinical description

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.

Genetic counseling

Transmission is autosomal dominant.

Expert reviewer(s)

  • Dr Juliana MAZZEU

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Detailed information

Summary information
Clinical genetics review
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