Hypochondrogenesis
Hypochondrogenesis (pronounced: hi-po-kon-dro-gen-e-sis) is a rare, severe skeletal disorder that affects the development of bones and cartilage. This condition is classified as a type of osteochondrodysplasia, a group of disorders that disrupt the growth and development of bone and cartilage.
Etymology
The term "Hypochondrogenesis" is derived from the Greek words "hypo" meaning under or less, "chondro" referring to cartilage, and "genesis" meaning origin or formation. Thus, the term literally translates to "under formation of cartilage".
Symptoms
Infants with Hypochondrogenesis are usually born with a small chest, short arms and legs, and other skeletal abnormalities. Many infants with this condition also have an opening in the roof of the mouth (cleft palate) and a Umbilical hernia or inguinal hernia.
Causes
Hypochondrogenesis is caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (vitreous). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and cartilage from developing properly.
Diagnosis
Diagnosis of Hypochondrogenesis is typically made through physical examination and imaging studies such as X-ray and ultrasound. 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. This may include management of respiratory complications, surgical repair of hernias, and other supportive treatments.
Prognosis
The prognosis for individuals with Hypochondrogenesis is poor, with most infants dying shortly after birth due to respiratory failure. Some infants with milder forms of the disorder have survived into childhood.
See also
External links
- Medical encyclopedia article on Hypochondrogenesis
- Wikipedia's article - Hypochondrogenesis
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