Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.
On this page:
Terminology
Fetal face syndrome and Robinow-Silverman syndrome are the other synonyms for this genetic disorder. Formerly it was known as costovertebral segmentation defect with mesomelia 8.
Epidemiology
The exact prevalence of the disease is unknown. However, fewer than 80 families with autosomal dominant Robinow syndrome have been described in literature 9.
Clinical spectrum
The syndrome can affect several systems, including:
Skeletal
short stature
mesomelic limb shortening: forearm brachymelia
madelung deformity at wrist
hemivertebrae/ fused vertebrae
Face
Genital
-
micropenis in males
hypoplasia of the clitoris and labia minora in females.
Pathology
Genetics
Both autosomal dominant and autosomal recessive forms exist.
The autosomal recessive form of the disorder has been linked to mutation in the ROR2 gene on position 9 of the long arm of chromosome 9 that results in lack of ROR2 protein which is responsible for formation of heart, skeleton and genitals. The autosomal dominant form is due to mutation in the WNT5A gene or DVL1 gene.
Some people with Robinow syndrome are without above mentioned gene mutation and cause for the condition is idiopathic.
History and etymology
It was first described in 1969 by the geneticist Meinhard Robinow 2 (and his colleagues).
Differential diagnosis
omodysplasia
Aarskog syndrome 8
Unable to process the form. Check for errors and try again.