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Hypochondroplasia

How is it diagnosed?

It is not easy to diagnose HCH in very young children and may be even be missed in adults. Diagnosis is made by identifying the features known to appear in HCH together with radiological (x-ray) findings. DNA based testing can confirm the FGFR3 gene mutation but cannot be used to eliminate the diagnosis.

View What are the causes? What are the causes?  |  How is it treated? View How is it treated?

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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