Hypochondrogenesis

Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and other skeletal abnormalities. Many infants with hypochondrogenesis are stillborn or die shortly after birth from respiratory failure; some individuals have lived into childhood.

Signs and Symptoms

The most common signs and symptoms of hypochondrogenesis include short stature, short limbs, narrow chest, short neck, and abnormalities in the spine, ribs, and pelvis. The severity of these symptoms can vary widely among affected individuals.

Causes

Hypochondrogenesis is caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the cartilage and is essential for the normal development of bones and other connective tissues.

Diagnosis

Diagnosis of hypochondrogenesis is typically made based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for hypochondrogenesis. Treatment is supportive and based on the signs and symptoms present in each person.

See Also

• Achondrogenesis
• Spondyloepiphyseal dysplasia congenita
• Kniest dysplasia

References

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