Atelosteogenesis, type II
Atelosteogenesis, type II (pronounced: at-elo-stee-o-genesis, type two) is a rare, lethal, congenital skeletal disorder characterized by short limbs, narrow chest, small ribs, underdeveloped lungs, and distinctive facial features.
Etymology
The term "Atelosteogenesis" is derived from the Greek words "atelos" meaning imperfect, and "osteogenesis" meaning bone formation. The term thus refers to the imperfect formation of bones, which is a key characteristic of this disorder.
Symptoms
The symptoms of Atelosteogenesis, type II include short stature, narrow chest, small ribs, underdeveloped lungs, and distinctive facial features. These symptoms are present from birth and are usually severe.
Causes
Atelosteogenesis, type II is caused by mutations in the FLNB gene. This gene provides instructions for making a protein called filamin B, which is involved in the development and maintenance of the structure of cells, including the development of the skeletal system.
Diagnosis
Diagnosis of Atelosteogenesis, type II is based on physical examination, genetic testing, and imaging studies such as X-ray and ultrasound.
Treatment
There is currently no cure for Atelosteogenesis, type II. Treatment is supportive and focuses on managing the symptoms. This may include respiratory support for underdeveloped lungs and orthopedic interventions for skeletal abnormalities.
Prognosis
The prognosis for individuals with Atelosteogenesis, type II is poor, as most infants with this condition do not survive past the newborn period due to respiratory failure.
See also
External links
- Medical encyclopedia article on Atelosteogenesis, type II
- Wikipedia's article - Atelosteogenesis, type II
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