- Hypochondroplasia
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 32832
ICD10 = ICD10|Q|77|4|q|65
ICD9 =
ICDO =
OMIM = 146000
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =Hypochondroplasia is a developmental disorder caused by an
autosomal dominant genetic defect in thefibroblast growth factor receptor 3 gene ("FGFR3 ")cite journal |author=Santos HG, Almeida M, Fernandes H, Wilkie A |title=Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS |journal=Am. J. Med. Genet. A |volume=143 |issue=4 |pages=355–9 |year=2007 |pmid=17256796 |doi=10.1002/ajmg.a.31556] that results in a disproportionately short stature,micromelia ,cite journal |author=Rousseau F, Bonaventure J, Legeai-Mallet L, "et al" |title=Clinical and genetic heterogeneity of hypochondroplasia |journal=J. Med. Genet. |volume=33 |issue=9 |pages=749–52 |year=1996 |pmid=8880574 |doi=] and a head that appears large when compared with the underdeveloped portions of the body. It is also known as "achondroplasia tarda" and "atypical achondroplasia."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.Getting Help
Standard treatment of hypochondroplasia usually takes the form of
orthopedic surgery andphysical therapy .Genetic counseling is advised for patients and their families.Etiology
This disorder is transmitted as an
autosomal dominant trait affecting the "FGFR3" gene onchromosome 4p16.3.cite journal |author=Heuertz S, Le Merrer M, Zabel B, "et al" |title=Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia |journal=Eur. J. Hum. Genet. |volume=14 |issue=12 |pages=1240–7 |year=2006 |pmid=16912704 |doi=10.1038/sj.ejhg.5201700]Epidemiology
Females tend to be affected more often than males.
ee also
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Achondroplasia References
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