Hypochondroplasia

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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

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