Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Hypochondroplasia

Reviewed October 2012

What is hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

How common is hypochondroplasia?

The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia.

What genes are related to hypochondroplasia?

About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. The overactive FGFR3 protein likely interferes with skeletal development and leads to the disturbances in bone growth that are characteristic of this disorder.

In the absence of a mutation in the FGFR3 gene, the cause of hypochondroplasia is unknown. Researchers suspect that mutations in other genes are involved, although these genes have not been identified.

Related Gene(s)

Changes in this gene are associated with hypochondroplasia.

  • FGFR3

How do people inherit hypochondroplasia?

Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have more severe problems with bone growth than those who inherit a single FGFR3 mutation.

Where can I find information about diagnosis or management of hypochondroplasia?

These resources address the diagnosis or management of hypochondroplasia and may include treatment providers.

  • Gene Review: Hypochondroplasia (http://www.ncbi.nlm.nih.gov/books/NBK1477/)
  • Genetic Testing Registry: Hypochondroplasia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0410529)
  • MedlinePlus Encyclopedia: Lordosis (http://www.nlm.nih.gov/medlineplus/ency/article/003278.htm)

You might also find information on the diagnosis or management of hypochondroplasia in Educational resources (http://www.ghr.nlm.nih.gov/condition/hypochondroplasia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/hypochondroplasia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about hypochondroplasia?

You may find the following resources about hypochondroplasia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for hypochondroplasia?

  • HCH
  • Hypochondrodysplasia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about hypochondroplasia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding hypochondroplasia?

autosomal ; autosomal dominant ; cartilage ; cell ; disability ; dwarfism ; gene ; incidence ; lordosis ; mutation ; new mutation ; ossification ; protein ; short stature ; stature ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct 15;112(3):304-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12357475?dopt=Abstract)
  • Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636. Epub 2011 Nov 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22045636?dopt=Abstract)
  • Gene Review: Hypochondroplasia (http://www.ncbi.nlm.nih.gov/books/NBK1477/)
  • Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002 Dec;3(4):381-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12424440?dopt=Abstract)
  • Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10696568?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2012
Published: July 7, 2014