Keratosis follicularis-dwarfism-cerebral atrophy syndrome

Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome (KFDCAS) is a rare genetic disorder characterized by a combination of skin abnormalities, short stature, and neurological issues.

Overview[edit | edit source]

KFDCAS is a complex syndrome that affects multiple systems in the body. The primary features of the syndrome include keratosis follicularis, a skin condition characterized by rough, bumpy skin; dwarfism, a condition that results in short stature; and cerebral atrophy, a condition characterized by a decrease in the size or a wasting away of the brain.

Symptoms[edit | edit source]

The symptoms of KFDCAS can vary greatly from person to person. However, the most common symptoms include:

Rough, bumpy skin (keratosis follicularis)
Short stature (dwarfism)
Decreased brain size or wasting away of the brain (cerebral atrophy)

Other symptoms may include intellectual disability, seizures, and various other neurological problems.

Causes[edit | edit source]

KFDCAS is a genetic disorder, which means it is caused by abnormalities in a person's genes. However, the exact genetic cause of KFDCAS is currently unknown.

Diagnosis[edit | edit source]

Diagnosis of KFDCAS is typically based on the presence of the characteristic symptoms. Additional tests, such as genetic testing, may be used to confirm the diagnosis.

Treatment[edit | edit source]

There is currently no cure for KFDCAS. Treatment is typically focused on managing the symptoms and improving the quality of life for those affected.

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