Goltz Syndrome

Goltz syndrome, also known as focal dermal hypoplasia, is a rare disorder that affects various parts such as the eyes, skin, hair, teeth, hands, and feet.

This rare disorder usually affects more females at around 90%. Those who have this syndrome have skin lesions which may have inflammation, blistering, crusting, and/or reddening. Wart-like growth manifest with age and are often found on the tongue, lips, gums, nose, anus, and genitalia. Tissue overgrowth may also occur on the soles and palms. Regarding eye abnormalities, they may have crossed eyes, lens dislocation, eyelid lining exposure, absence of one eye, nystagmus, cleft along the eyeball’s edge, corneal clouding, and drooping eyelids. Other symptoms include scoliosis, fused vertebrae, abnormalities of the toes and/or fingers such as polydactyly, cleft palate, uneven development of face and limbs, underdeveloped teeth, intellectual disability, ear abnormalities, heart problems, kidney complications, and gastrointestinal concerns. Goltz syndrome is caused by mutations or deletions in the PORCN gene which is found in the X chromosome. This condition was first described by Dr. Goltz in 1962.

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