Fibrochondrogenesis
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.
Related Terms
External links
- Medical encyclopedia article on Fibrochondrogenesis
- Wikipedia's article - Fibrochondrogenesis
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