Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Camila Xu
 + 428 word(s) 428 2020-12-15 07:27:29

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Hypochondroplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4151 (accessed on 19 April 2024).
Xu C. Hypochondroplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4151. Accessed April 19, 2024.
Xu, Camila. "Hypochondroplasia" Encyclopedia, https://encyclopedia.pub/entry/4151 (accessed April 19, 2024).
Xu, C. (2020, December 23). Hypochondroplasia. In Encyclopedia. https://encyclopedia.pub/entry/4151
Xu, Camila. "Hypochondroplasia." Encyclopedia. Web. 23 December, 2020.
Hypochondroplasia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/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.

genetic conditions

1. Introduction

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.

2. Frequency

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.

3. Causes

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.

3.1. The gene associated with Hypochondroplasia

  • FGFR3

4. Inheritance

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.

5. Other Names for This Condition

  • HCH

  • Hypochondrodysplasia

References

  1. Bober MB, Bellus GA, Nikkel SM, Tiller GE. Hypochondroplasia. 1999 Jul 15[updated 2020 May 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1477/
  2. Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct 15;112(3):304-13. Review.
  3. Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling inskeletal dysplasias. Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636.
  4. Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations inachondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002Dec;3(4):381-5. Review.
  5. Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis offibroblast growth factor receptor 3 disorders: the achondroplasia family ofskeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome withacanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Camila Xu
View Times: 316
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback