Fibrochondrogenesis

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Fibrochondrogenesis

Fibrochondrogenesis (pronunciation: fy-bro-kon-dro-gen-e-sis) is a rare, autosomal recessive osteochondrodysplasia that is typically lethal in the perinatal period.

Etymology

The term "Fibrochondrogenesis" is derived from the Greek words "fibro" meaning fiber, "chondro" meaning cartilage, and "genesis" meaning origin or formation.

Definition

Fibrochondrogenesis is a severe, short-limbed dwarfism characterized by broad long-bone metaphyses and pear-shaped vertebral bodies. It is a disorder of the cartilage and bone development, which leads to abnormalities in the skeleton, particularly the spine and the long bones in the arms and legs.

Symptoms

The symptoms of fibrochondrogenesis include micrognathia (small lower jaw), cleft palate, prominent eyes, a small chest with short ribs, short arms and legs, and other skeletal abnormalities.

Diagnosis

Diagnosis of fibrochondrogenesis is typically made through ultrasound during pregnancy when skeletal abnormalities are detected. After birth, radiography can be used to 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.

Prognosis

The prognosis for individuals with fibrochondrogenesis is poor, with most infants dying shortly after birth due to respiratory failure.

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