Goltz syndrome

Also known as

  • Focal dermal Hypoplasia

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face

Condition details

People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin , yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent, small clusters of veins on the surface of the skin and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes. Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes, absent or severely underdeveloped eyes and problems with the tear ducts. People may have distinctive facial features. Affected individuals often have 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

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • PORCN

Inheritance patterns

Is X-linked

Are carriers affected?

How many are affected?

unknown

Support groups and organisations

No groups found

Known experts

No experts found

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