Platyspondylic lethal skeletal dysplasia, Torrance type
Platyspondylic lethal skeletal dysplasia, Torrance type (pronunciation: pla-ti-spon-dil-ik le-thal ske-le-tal dis-pla-sia, tor-rance type) is a rare genetic disorder characterized by severe skeletal abnormalities.
Etymology
The term "Platyspondylic" is derived from the Greek words "platys" meaning flat, and "spondylos" meaning vertebra, referring to the flattened spinal bones observed in this condition. "Lethal skeletal dysplasia" refers to the life-threatening bone growth abnormalities associated with the disorder. The condition is named "Torrance type" after the scientist who first described it.
Symptoms
The primary symptoms of Platyspondylic lethal skeletal dysplasia, Torrance type include short stature, platyspondyly (flattened vertebrae), and various other skeletal abnormalities. Other symptoms may include micrognathia (small jaw), cleft palate, and hypoplastic (underdeveloped) lungs.
Causes
This condition is caused by mutations in the COL2A1 gene, which 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 Platyspondylic lethal skeletal dysplasia, Torrance type is typically made through a combination of physical examination, medical history, and imaging studies such as X-ray and MRI. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Platyspondylic lethal skeletal dysplasia, Torrance type. Treatment is supportive and symptomatic, often involving a team of specialists. This may include orthopedic surgeons, pulmonologists, and geneticists.
Prognosis
The prognosis for individuals with Platyspondylic lethal skeletal dysplasia, Torrance type is generally poor, as the condition is often lethal in infancy or early childhood due to respiratory failure.
See also
External links
- Medical encyclopedia article on Platyspondylic lethal skeletal dysplasia, Torrance type
- Wikipedia's article - Platyspondylic lethal skeletal dysplasia, Torrance type
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski