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Focal dermal hypoplasia

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Title: Focal dermal hypoplasia  
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Focal dermal hypoplasia

Focal dermal hypoplasia
Classification and external resources
ICD-10 9 OMIM DiseasesDB eMedicine MeSH GeneReviews

Focal dermal hypoplasia (also known as "Goltz syndrome") is a form of ectodermal dysplasia.[1]:573

It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.[2]

It has been associated with PORCN gene mutations on the X chromosome.[3]

The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations; a syndrome of focal dermal hypoplasia, morning glory anomaly, and polymicrogyria; incontinentia pigmenti; oculocerebrocutaneous syndrome; Rothmund-Thomson syndrome; and MLS (microphthalmia with linear skin defects) syndrome caused by deletions or point mutations in the HCCS gene.

See also

References

External links

  • http://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2092
  • GeneReview/NIH/UW entry on Focal dermal hypoplasia


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