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Hypochondroplasia



Hypochondroplasia
Classification & external resources
ICD-10 Q77.4
OMIM 146000
DiseasesDB 32832

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 also known as "achondroplasia tarda" and "atypical achondroplasia."

Additional recommended knowledge

Contents

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 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.[3]

Epidemiology

Females tend to be affected more often than males.

See also

References

  1. ^ 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.
  2. ^ Rousseau F, Bonaventure J, Legeai-Mallet L, et al (1996). "Clinical and genetic heterogeneity of hypochondroplasia". J. Med. Genet. 33 (9): 749–52. PMID 8880574.
  3. ^ 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.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Hypochondroplasia". A list of authors is available in Wikipedia.
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