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Hypochondroplasia

What are the causes?

About seventy per cent of people with HCH have an identifiable mutation in the FGFR3 gene on chromosome 4p16.3. The remaining thirty per cent will either have a so far unrecognised mutation in the FGFR3 gene or a mutation in other as yet unidentified genes. 

View What are the symptoms? What are the symptoms?  |  How is it diagnosed? View How is it diagnosed?

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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