Hypochondroplasia
Hypochondroplasia | |
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Hypochondroplasia is autosomal dominant in inheritance. | |
Specialty | Medical genetics ![]() |
Symptoms | Skeletal dysplasia[1] |
Causes | FGFR3 gene mutation[2] |
Diagnostic method | Physical finding, X-ray[3] |
Treatment | Special education, Laminectomy [1] |
Hypochondroplasia (HCH) is a developmental disorder caused by an
Signs and symptoms
Individuals affected by this disorder appear normal at birth. As the infant grows, however, their arms and legs do not develop properly, and their body becomes thicker and shorter than normal.[3] The following are characteristics consistent with this condition:[1]
- Brachydactyly
- Short stature
- Micromelia
- Skeletal dysplasia
- Abnormality of femur
Cause
Hypochondroplasia is inherited as an
Pathophysiology
![](http://upload.wikimedia.org/wikipedia/commons/thumb/c/cf/PDB_1m61_EBI.jpg/100px-PDB_1m61_EBI.jpg)
This disorder results from mutations in the proximal
Hypochondroplasia can be caused by point mutations such as p. Lys650Asn.[6][3] In FGFR3, some 20 different mutations have been associated with hypochondroplasia,[7] and it seems to have a role in skeletal dysplasia.[8]
Diagnosis
The diagnosis of this condition can be done via
Treatment
![](http://upload.wikimedia.org/wikipedia/commons/thumb/9/9f/Spinal_Stenosis.png/110px-Spinal_Stenosis.png)
Treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy. Genetic counseling is advised for individuals and their families. Specifically in the case of spinal stenosis, one option is laminectomy.[3][1]
Prognosis
Life expectancy for individuals with hypochondroplasia is normal; height is about 132–147 centimetres (4 ft 4 in – 4 ft 10 in).[11]
See also
References
- ^ a b c d "Hypochondroplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 21 December 2016.
- ^ a b c "Hypochondroplasia - Genetics Home Reference". Retrieved 2009-03-12.
- ^ PMID 20301650. Retrieved 18 December 2016.update 2013
- ^ "Dwarfism: MedlinePlus". NIH. Retrieved 21 December 2016.
- ^ "Entry - *134934 - FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 - OMIM - (MIRROR)". mirror.omim.org. Retrieved 2023-02-28.
- ^ "NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) AND Hypochondroplasia - ClinVar - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016.
- ^ Reference, Genetics Home. "FGFR3 gene". Genetics Home Reference. Retrieved 21 December 2016.
- PMID 22045636.
- ^ "OMIM Entry - # 146000 - HYPOCHONDROPLASIA; HCH". omim.org. Retrieved 21 December 2016.
- ^ "Hypochondroplasia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016.
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Hypochondroplasia". www.orpha.net. Retrieved 21 December 2016.
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Further reading
- ed, Sally Radovick; MacGillivray, Margaret H. (2010). Pediatric Endocrinology a Practical Clinical Guide, Second Edition (2nd ed.). Dordrecht: Springer. ISBN 9781607613954. Retrieved 21 December 2016.
- Kelly, Evelyn B. (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. ISBN 9780313387142. Retrieved 21 December 2016.