Fibrochondrogenesis

Fibrochondrogenesis is a rare, lethal, congenital skeletal dysplasia characterized by a short trunk and limbs, a narrow chest, and a prominent, rounded abdomen. The condition is caused by mutations in the COL11A1 and COL11A2 genes.

Signs and Symptoms

The most common signs and symptoms of fibrochondrogenesis include short stature, micrognathia (small lower jaw), cleft palate, and clubfoot. Other features may include hypoplastic (underdeveloped) lungs, omphalocele (abdominal wall defect), and hydrops fetalis (excessive fluid accumulation in the body before birth).

Causes

Fibrochondrogenesis is caused by mutations in the COL11A1 and COL11A2 genes. These genes provide instructions for making a protein that is used to form larger molecules called type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissues throughout the body. Mutations in these genes disrupt the assembly of type XI collagen molecules, which affects the development of bones and other connective tissues.

Diagnosis

Diagnosis of fibrochondrogenesis is typically made based on the characteristic clinical and radiographic findings. Prenatal diagnosis may be possible through ultrasound examination. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for fibrochondrogenesis. Treatment is supportive and based on the signs and symptoms present in each person. Management may include physical therapy to improve joint mobility and maintain muscle tone.

Prognosis

The prognosis for individuals with fibrochondrogenesis is poor. Most affected infants die shortly after birth due to respiratory failure. A small number of affected individuals have lived into childhood.

See Also

• Skeletal dysplasia
• Congenital disorder
• COL11A1
• COL11A2

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