robinow syndrome
Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.
Clinical spectrum
The syndrome can affect several systems, including:
- mesomelic limb shortening: mesomelia
- hemivertebrae
- characteristic facies anomalies
- fetal facies
- hypertelorism
- frontal bossing
- long philtrum
- hypogenitalism
- micropenis in males
- hypoplasia of the clitoris and labia minora in females.
- cryptorchidism
Pathology
Genetics
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 (and his colleagues).
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Robinow-Syndrom:
