Atypical Achondroplasia

Brain & Nerve

Bone, Muscle, & Joint

Contributed byMaulik P. Purohit MD MPHNov 05, 2020

The topic Atypical Achondroplasia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Hypochondroplasia.

Quick Summary:

Hypochondroplasia is a genetic disorder that affects bone growth and development. Individuals with Hypochondroplasia have a short stature (dwarfism). They also often have disproportionately short limbs when compared to the rest of their body
It is caused by a mutation in the FGFR3 gene in about 70% of the cases. The cause of Hypochondroplasia is unknown in the remaining 30%, though genetic mutations are implicated
The complications of Hypochondroplasia may include delayed intellectual growth, sleep apnea, severe spinal cord defects, and other bone abnormalities
There is no cure for Hypochondroplasia. The affected individuals may need lifelong treatment that may involve the use of growth hormones, limb lengthening and other surgical procedures, with appropriate management of the complications that may arise
The prognosis for Hypochondroplasia is generally good and many individuals are able to lead a normal quality of life

Please find comprehensive information on Hypochondroplasia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

On the Article

Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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