Focal dermal hypoplasia

Focal dermal hypoplasia is a rare genetic disorder that primarily affects the skin, skeleton, eyes, and face. The condition is also known as Goltz syndrome.

The molecular Location of the PORCN gene on the X chromosome: base pairs 48,367,346 to 48,379,201

Symptoms[edit | edit source]

The symptoms of focal dermal hypoplasia are highly variable and can include skin abnormalities, skeletal abnormalities, and eye abnormalities. Some individuals may also have facial abnormalities and intellectual disability.

Skin Abnormalities[edit | edit source]

The skin abnormalities associated with focal dermal hypoplasia are present at birth and can include patches of thin, wrinkled skin, areas of hyperpigmentation and hypopigmentation, and small clusters of blood vessels just under the skin.

Skeletal Abnormalities[edit | edit source]

Skeletal abnormalities can include short stature, scoliosis, and abnormalities of the hands and feet, such as syndactyly (fusion of the fingers or toes) or polydactyly (extra fingers or toes).

Eye Abnormalities[edit | edit source]

Eye abnormalities can include microphthalmia (small eyes), coloboma (a hole in the eye), and strabismus (crossed eyes).

Facial Abnormalities[edit | edit source]

Facial abnormalities can include a small, pointed chin, a flat nasal bridge, and a cleft or split in the upper lip (cleft lip) or palate (cleft palate).

Causes[edit | edit source]

Focal dermal hypoplasia is caused by mutations in the PORCN gene. This gene provides instructions for making a protein that is involved in the development of many tissues and organs before birth.

Diagnosis[edit | edit source]

The diagnosis of focal dermal hypoplasia is based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis.

Treatment[edit | edit source]

There is currently no cure for focal dermal hypoplasia. Treatment is aimed at managing the symptoms and can include surgery to correct skeletal abnormalities, skin care to manage skin abnormalities, and special education services for those with intellectual disability.

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