Hypochondroplasia
Hypochondroplasia (pronunciation: hi-po-kon-dro-play-zhuh) is a medical condition characterized by short stature and skeletal abnormalities. It is a form of dwarfism and is considered a milder variant of achondroplasia, the most common type of short-limbed dwarfism.
Etymology
The term "hypochondroplasia" is derived from the Greek words "hypo" meaning "under" or "less than", "chondro" referring to "cartilage", and "plasia" meaning "formation". Thus, the term essentially refers to the underdevelopment or less than normal formation of cartilage.
Symptoms
Individuals with hypochondroplasia typically have short stature with disproportionately short arms and legs. Other features can include a large head (macrocephaly), limited range of motion at the elbows, and a broad, rounded chest. Some individuals may also have mild intellectual disability.
Causes
Hypochondroplasia is 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.
Diagnosis
Diagnosis of hypochondroplasia is based on physical examination and radiographic findings. Genetic testing can confirm the diagnosis.
Treatment
There is no cure for hypochondroplasia. Treatment is symptomatic and supportive, and can include physical therapy, occupational therapy, and surgical interventions for skeletal abnormalities.
See Also
External links
- Medical encyclopedia article on Hypochondroplasia
- Wikipedia's article - Hypochondroplasia
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