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Hypochondroplasia
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
FeaturesPeople 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. PathophysiologyThis 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 HelpStandard treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy. Genetic counseling is advised for patients and their families. EtiologyThis disorder is transmitted as an autosomal dominant trait affecting the FGFR3 gene on chromosome 4p16.3.[3] EpidemiologyFemales tend to be affected more often than males. See alsoReferences
Categories: Skeletal disorders | Skeletal system | Growth disorders | Genetic disorders |
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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. |