Gemss syndrome

Gemss syndrome is a rare genetic disorder characterized by a combination of symptoms that can include growth retardation, eye abnormalities, microcephaly (small head size), seizures, and skin abnormalities. The syndrome is named after the initials of the five main features: Growth retardation, Eye abnormalities, Microcephaly, Seizures, and Skin abnormalities.

Symptoms and Signs

The symptoms of Gemss syndrome can vary greatly from person to person. However, the five main features of the syndrome are:

• Growth retardation: This refers to a slower than normal rate of growth. In the case of Gemss syndrome, this can affect both physical and mental development.
• Eye abnormalities: These can include a range of different issues, such as cataracts, glaucoma, and retinal detachment. These problems can lead to vision loss if not treated.
• Microcephaly: This is a condition where the head is smaller than normal because the brain has not developed properly or has stopped growing.
• Seizures: People with Gemss syndrome often experience seizures, which are sudden, uncontrolled electrical disturbances in the brain.
• Skin abnormalities: These can include a range of different issues, such as eczema, psoriasis, and vitiligo.

Causes

Gemss syndrome is a genetic disorder, which means it is caused by abnormalities in the genes. It is thought to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the faulty gene for a child to be affected.

Diagnosis

Diagnosis of Gemss syndrome is based on the presence of the five main features of the syndrome. Genetic testing can also be used to confirm the diagnosis.

Treatment

There is currently no cure for Gemss syndrome. Treatment is focused on managing the symptoms and improving the quality of life for those affected. This can include medication to control seizures, surgery to correct eye abnormalities, and therapy to help with developmental delays.

See also

• Genetic disorder
• Autosomal recessive inheritance
• Microcephaly
• Seizure

NIH genetic and rare disease info

• NIH info on Gemss syndrome

Gemss syndrome is a rare disease.

Gemss syndrome Resources
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