Robinow syndrome is a rare genetic condition that causes bone (skeletal) abnormalities and a unique facial appearance. Skeletal features may include shortening of the long bones in the arms and legs, short fingers and toes (brachydactyly), abnormal development of the spinal bones (hemivertebrae) that can cause an abnormal curve in the spine (kyphoscoliosis), abnormal ribs and short stature. Other problems include underdeveloped external reproductive organs (genitalia), dental issues, kidney problems or heart defects. The unique facial features in a person with Robinow syndrome may include widely spaced eyes, a short nose with an upturned tip, and a wide nasal bridge.
There are two forms of this condition, an autosomal recessive and an autosomal dominant form. The autosomal recessive form of Robinow syndrome occurs when a person has inherited mutations in each of their two copies of the ROR2 gene. The gene that causes the autosomal dominant form of Robinow syndrome is unknown. Symptoms are similar in both forms, but seem to be milder in the autosomal dominant form of this condition.
This condition is typically diagnosed when the unique facial features are recognized by a genetics doctor (geneticist) or when the bone abnormalities are recognized on bone imaging (x-rays). Genetic testing of the ROR2 gene can be used to confirm the diagnosis. Treatment usually includes surgery to repair bone abnormalities and growth hormone treatment to help with growth hormone deficiency and short stature. Visiting with a genetic counselor can be useful to better understand the diagnosis. If your child has been diagnosed with Robinow syndrome, talk with their doctors and specialists about the most current treatment options available. Support groups are a good resource for additional information and to connect with other families.