Robinow syndrome is a rare heterogenous genetic disorder with at least two distinct forms.
The syndrome can affects several systems which include:
- mesomelic limb shortening: mesomelia
- characteristic facies anomalies
- micropenis in males
- hypoplasia of the clitoris and labia minora in females.
Both autosomal dominant and autosomal recessive forms exist.
The autosomal recessive form of the disorder has been linked to the ROR2 gene on position 9 of the long arm of chromosome 9.
History and etymology
It was first described in 1969 by Meinhard Robinow 2: geneticist (and his colleagues).
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