What is Hypochondraplasia?

Hypochondraplasia is a genetic disorder that affects bone growth. It is characterized by short stature, disproportionately short arms and legs, and a large head. Hypochondraplasia is caused by mutations in the FGFR3 gene, which is responsible for producing a protein that is involved in bone development.

Symptoms of hypochondraplasia can vary from person to person, but may include:

* Short stature

* Disproportionately short arms and legs

* A large head

* Delayed motor development

* Joint problems

* Muscle weakness

* Waddling gait

* Narrow chest

* Scoliosis

* Kyphosis

* Sleep apnea

* Dental problems

* Hearing problems

* Vision problems

Hypochondraplasia is diagnosed based on a person's physical appearance and medical history. Genetic testing can also be used to confirm a diagnosis.

There is no cure for hypochondraplasia, but treatment can help to improve symptoms and quality of life. Treatment may include:

* Growth hormone therapy

* Physical therapy

* Occupational therapy

* Speech therapy

* Surgery to correct bone deformities

With proper treatment, most people with hypochondraplasia can live full and active lives.