Genetics
Genetic studies have linked the autosomal recessive form of the disorder to the ROR2 gene on position 9 of the long arm of chromosome 9. The gene is responsible for aspects of bone and cartilage growth. This same gene is involved in causing autosomal dominant brachydactyly B.
The autosomal dominant form has not been linked to a specific gene, though those related to ROR2 are being studied. This form is often caused by new mutations. Alternatively, it may be passed from a parent who is so mildly affected by the disorder that he or she has not been diagnosed.
A fetal ultrasound can offer prenatal diagnosis 19 weeks into pregnancy. However, the characteristics of a fetus suffering from the milder dominant form may not always be easy to differentiate from a more serious recessive case. Genetic counseling is an option given the availability of a family history.
Read more about this topic: Robinow Syndrome