The 20 Best Focal Dermal Hypoplasia Doctors Near Me in Orange, CA

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with Focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by genetic changes in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of Focal dermal hypoplasia in females result from new genetic changes in the PORCN gene and occur in people with no history of the disorder in their family. When Focal dermal hypoplasia occurs in males, it always results from a new genetic change in this gene that is not inherited.