Robinow syndrome is a disorder associated with growth deficiency. Characteristic facial features usually help the clinician in making clinical suspicion.
There are many causative genes and hence etiological diagnosis is important for genetic counselling. Risk of recurrence in the sibs of the affected child may vary from almost 0% to 25% depending on the causative gene.
The important malformations which may need intervention are cardiac, renal, teeth, palate and close monitoring for development of abnormalities of spinal curvature is important.
Cognitive function is usually normal. They do not have growth hormone deficiency.
The pubertal development is usually normal.
ROR2