Robinow syndrome

Robinowsyndrome

Robinow syndrome is a rare genetic disorder characterized by distinctive facial features, limb shortening, and genital abnormalities. It was first described by the German geneticist Meinhard Robinow in 1969. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner.

Clinical Features

Individuals with Robinow syndrome typically present with:

• Facial dysmorphism: This includes a broad forehead, hypertelorism (wide-set eyes), a short nose with an upturned tip, and a wide mouth.
• Limb shortening: Shortening of the arms and legs, particularly the forearms and lower legs.
• Genital abnormalities: Males may have micropenis and undescended testes, while females may have underdeveloped genitalia.
• Vertebral anomalies: Abnormalities in the spine, such as hemivertebrae or scoliosis.
• Growth retardation: Short stature is common in individuals with Robinow syndrome.

Genetics

Robinow syndrome can be caused by mutations in several genes, including ROR2 and WNT5A. The autosomal dominant form is often associated with mutations in the WNT5A gene, while the autosomal recessive form is typically linked to mutations in the ROR2 gene.

Diagnosis

The diagnosis of Robinow syndrome is primarily based on clinical features and can be confirmed through genetic testing. Prenatal diagnosis is possible if there is a known family history of the disorder.

Management

There is no cure for Robinow syndrome, and treatment is symptomatic and supportive. Management may include:

• Orthopedic surgery: To address limb and spine abnormalities.
• Hormone therapy: For genital abnormalities.
• Physical therapy: To improve mobility and muscle strength.
• Genetic counseling: For affected families to understand the inheritance pattern and risks for future pregnancies.

Epidemiology

Robinow syndrome is extremely rare, with an estimated prevalence of less than 1 in 500,000 individuals. It affects both males and females equally.

See Also

• Dwarfism
• Genetic disorder
• Skeletal dysplasia
• Congenital disorder

External Links

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Related Pages

• ROR2
• WNT5A
• Dwarfism
• Genetic disorder
• Skeletal dysplasia
• Congenital disorder