Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.
The syndrome can affect several systems, including:
- mesomelic limb shortening: mesomelia
- characteristic facies anomalies
- micropenis in males
- hypoplasia of the clitoris and labia minora in females.
- cryptorchidism 7
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 the geneticist Meinhard Robinow 2 (and his colleagues).
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