Focal dermal hypoplasia

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals ...1

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Symptoms of Focal dermal hypoplasia

Symptoms: Focal dermal hypoplasia is usually evident from birth and primarily affects the skin, skeleton, eyes, and face. The signs and symptoms of vary widely, although almost all affected individuals have skin abnormalities.[1] Some of the skin findings include ...2

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Types of Focal dermal hypoplasia

Some types of this condition may include:3 Types of focal dermal hypoplasia:

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Genetics of Focal dermal hypoplasia

Genetic Changes: Mutations in the PORCN gene cause focal dermal hypoplasia . This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that ...4

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)5 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ focal-dermal-hypoplasia
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6457/ focal-dermal-hypoplasia
  3. Source: NCI Thesaurus
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ focal-dermal-hypoplasia
  5. ibid.

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