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Focal Dermal Hypoplasia (Goltz syndrome)

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Focal Dermal Hypoplasia is thought to be inherited as an X-linked dominant condition. Males with the affected gene are thought not to survive early pregnancy. The gene has not yet been identified but this inheritance pattern explains why the condition is so patchy in distribution.

Prenatal diagnosis
This is dependent on ultra sound examination in the second trimester (three to six months) of pregnancy. As it is difficult to see skin changes on the ultrasound image, it is not definitive. Limb anomalies can however be picked up. No gene test is currently available.

View How is it diagnosed? How is it diagnosed?  |  Is there support? View Is there support?

Medical text written March 2002 by Dr I K Temple, Consultant Clinical Geneticist, Wessex Clinical Genetics Service, Southampton University Hospital Trust, Southampton, UK. Last updated July 2006 by Professor RCM Hennekam, Professor of Clinical Dysmorphology, Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

 

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