How is Robinow syndrome treated?

Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene. In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.

Is Robinow syndrome congenital?

Diagnosis of Robinow syndrome is usually made shortly after birth based on physical findings including short stature, limb and genital abnormalities and characteristic facial features. Molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome.

Is hypertelorism hereditary?

The parents have been consanguineous in most reports and no vertical transmission has been documented making autosomal recessive the most likely pattern of inheritance. Treatment Options: No treatment for the general disorder has been reported.

Is Robinow syndrome genetic?

Autosomal dominant Robinow syndrome can be caused by mutations in several genes, including FZD2, WNT5A, DVL1, and DVL3. The osteosclerotic form of the condition results from DVL1 gene mutations.

Do you need surgery for hypertelorism in children?

Children with syndromes may need further surgery that can also be combined with the hypertelorism correction.

Where is the best place to treat hypertelorism?

It is important that assessment and treatment for hypertelorism take place in the setting of a multidisciplinary craniofacial team, like we have at Children’s Health℠.

What kind of Doctor to see for hypertelorism?

The combination of in-house pediatric plastic surgeons experienced in treating complex craniofacial conditions and pediatric oral and maxillofacial surgeons together with pediatric craniofacial orthodontists, pediatric dentists and developmental psychologists is important to provide the best care for the child.