Hypochondroplasia
| Hypochondroplasia | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q77.4 |
| OMIM | 146000 |
| DiseasesDB | 32832 |
| GeneReviews | |
Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3)[1] that results in a disproportionately short stature, micromelia,[2] and a head that appears large when compared with the underdeveloped portions of the body.
It is classified as short-limbed dwarfism.[3]
Features
People 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. The head is normal but appears large due to the underdevelopment of other parts of the body, a symptom called "relative macrocephaly".
The clinical and radiographic features of this disorder are milder than those seen in achondroplasia.
Intelligence is usually normal.
Pathophysiology
This disorder results from mutations in the proximal tyrosine kinase domain of the FGFR3 gene. This gene plays an important role in embryonic development, playing a part in regulating activities such as cell division, migration, and differentiation.
Treatment
Standard treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy. Genetic counseling is advised for patients and their families.
Etiology
This disorder is transmitted as an autosomal dominant trait affecting the FGFR3 gene on chromosome 4p16.3.[4] There is no cure for this condition.
Epidemiology
Females tend to be affected more often than males.
See also
References
- ↑ Santos HG, Almeida M, Fernandes H, Wilkie A (2007). "Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS". Am. J. Med. Genet. A 143 (4): 355–9. doi:10.1002/ajmg.a.31556. PMID 17256796.
- ↑ Rousseau F, Bonaventure J, Legeai-Mallet L, et al. (1996). "Clinical and genetic heterogeneity of hypochondroplasia". J. Med. Genet. 33 (9): 749–52. doi:10.1136/jmg.33.9.749. PMC 1050728. PMID 8880574.
- ↑ "Hypochondroplasia - Genetics Home Reference". Retrieved 2009-03-12.
- ↑ Heuertz S, Le Merrer M, Zabel B, et al. (2006). "Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia". Eur. J. Hum. Genet. 14 (12): 1240–7. doi:10.1038/sj.ejhg.5201700. PMID 16912704.
External links
| ||||||||||||||||||||||||||||||||||||||||||||||||||