Oculocerebrocutaneous syndrome

Oculocerebrocutaneous Syndrome

Oculocerebrocutaneous syndrome (pronunciation: ok-yoo-loh-ser-uh-broh-kyoo-tay-nee-us sin-drohm) is a rare genetic disorder characterized by a range of symptoms affecting the eyes, brain, and skin.

Etymology

The term "Oculocerebrocutaneous syndrome" is derived from the Latin words 'oculus' meaning eye, 'cerebro' referring to the brain, and 'cutaneous' pertaining to the skin, indicating the primary areas affected by this syndrome.

Symptoms

The symptoms of Oculocerebrocutaneous syndrome can vary greatly among individuals. However, common symptoms include:

• Microphthalmia: Abnormally small eyes
• Dermal appendages: Skin tags often present near the eyes
• Intellectual disability: Varying degrees of cognitive impairment
• Seizures: Recurrent seizures are common in individuals with this syndrome

Causes

Oculocerebrocutaneous syndrome is caused by a mutation in the FLNA gene, which provides instructions for producing a protein called filamin A. This protein plays a crucial role in the development of cells that form the brain, eyes, and skin.

Diagnosis

Diagnosis of Oculocerebrocutaneous syndrome is typically based on the presence of characteristic symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the FLNA gene.

Treatment

Treatment for Oculocerebrocutaneous syndrome is symptomatic and supportive, focusing on managing individual symptoms and improving quality of life. This may include surgical removal of dermal appendages, seizure management, and supportive therapies for intellectual disability.

Related Terms

• Genetic disorder
• Mutation
• Gene
• Protein
• Symptom
• Diagnosis
• Treatment

External links

• Medical encyclopedia article on Oculocerebrocutaneous syndrome
• Wikipedia's article - Oculocerebrocutaneous syndrome

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