Robinow syndrome
Robinow syndrome is a rare genetic disorder that primarily affects the development of the skeletal system. The name is pronounced as "ro-bin-ow" syndrome. The etymology of the term comes from the name of the doctor, Meinhard Robinow, who first described the condition in 1969.
Characteristics
People with Robinow syndrome often have distinctive facial features, including a broad forehead, widely spaced eyes (hypertelorism), a short nose with an upturned tip, and a prominent mouth. Other common features include short stature (dwarfism), spinal abnormalities (scoliosis), and abnormalities in the hands and feet.
Types
There are two types of Robinow syndrome: autosomal dominant and autosomal recessive. The autosomal dominant form is less severe and more common, while the autosomal recessive form is more severe and less common.
Causes
Robinow syndrome is caused by mutations in specific genes. The autosomal dominant form is often caused by mutations in the WNT5A gene, while the autosomal recessive form can be caused by mutations in the ROR2, NXN, or DRG1 genes.
Diagnosis
Diagnosis of Robinow syndrome is based on physical characteristics and genetic testing. Genetic testing can confirm the diagnosis and identify the specific gene mutation.
Treatment
There is no cure for Robinow syndrome. Treatment is focused on managing symptoms and may include physical therapy, surgery to correct skeletal abnormalities, and hormone therapy to promote growth.
See also
External links
- Medical encyclopedia article on Robinow syndrome
- Wikipedia's article - Robinow syndrome
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