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Hypochondroplasia

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal dominant.

Prenatal diagnosis
Chorionic Villus sampling or amniocentesis is available if a parent has HCH and a mutation in the FGFR3 gene has been identified. Where the mutation has not been identified ultrasound scanning is the only method of prenatal testing. Families where HCH has been diagnosed should seek genetic counselling.

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

Medical text written September 2004 by Contact a Family. Approved September 2004 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK.

 

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