National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hypochondroplasia

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Are there any associated problems with mucosal tissue (frequent, severe nosebleeds) with this disorder. Would later closure of fontanelle (after 18 months) be associated with this syndrome? Are cognitive or speech-language symptoms associated with the syndrome?

The following information may help to address your question:


Is hypochondroplasia associated with mucosal tissue problems, such as frequent severe nosebleeds?

After an extensive search of the resource available to us, we were unable to find an association between hypochondroplasia and nosebleeds.
Last updated: 5/21/2015

Is hypochondroplasia associated with delayed closure of the fontanelle?

Much of what we know regarding the signs and symptoms of hypochondroplasia is taken from individual case reports and small studies. One case report described two people with hypochondroplasia who had a large head circumference with delayed closure of the fontanels.[8755] There has also been very rare reports of children with hypochondroplasia with craniosynostosis (or premature fusion of cranial sutures).[1]
Last updated: 5/21/2015

Is hypochondroplasia associated with speech-language impairment?

Yes. While many people with hypochondroplasia have no issues, recent studies suggest that people with hypochondroplasia have an increased risk for problems with development and learning. For those with neurodevelopmental symptoms a recent study by Linnankivi et al., 2012 described prominent problems being in "expressive language and in attention.[2]"
Last updated: 5/21/2015

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. Angle B, Hersh JH, Christensen KM. Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. Clin Genet. 1998 Nov; 54(5):417-20. Accessed 5/21/2015.
  2. Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. Am J Med Genet A. 2012 Dec; 158A(12):3119-25. Accessed 5/21/2015.
  3. Hypochondroplasia. Online Mendelian Inheritance in Man. 2016; http://omim.org/entry/146000.