Atelosteogenesis, type II

autorecessive

Atelosteogenesis, type II is a rare genetic disorder characterized by severe skeletal dysplasia. It is one of the three types of atelosteogenesis, with the other two being Atelosteogenesis, type I and Atelosteogenesis, type III. This condition is typically lethal in the perinatal period.

Presentation

Individuals with atelosteogenesis, type II exhibit a range of clinical features, including:

• Severe short stature
• Micromelia (disproportionately short limbs)
• Cleft palate
• Micrognathia (small jaw)
• Hypertelorism (wide-set eyes)
• Clubfoot
• Joint dislocations

Genetics

Atelosteogenesis, type II is caused by mutations in the COL2A1 gene, which encodes the type II collagen protein. This protein is essential for the normal development of cartilage and bone. The disorder follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene can cause the condition.

Diagnosis

Diagnosis is typically made through clinical evaluation and confirmed by genetic testing. Prenatal diagnosis can be performed using ultrasound and molecular genetic testing if there is a known family history of the disorder.

Treatment

There is no cure for atelosteogenesis, type II. Management is primarily supportive and focuses on addressing the symptoms and complications associated with the disorder. This may include:

• Orthopedic surgery for joint dislocations and clubfoot
• Respiratory support for breathing difficulties
• Nutritional support for feeding difficulties

Prognosis

The prognosis for individuals with atelosteogenesis, type II is generally poor. Most affected infants do not survive beyond the neonatal period due to severe respiratory complications.

Related Pages

• Atelosteogenesis, type I
• Atelosteogenesis, type III
• Skeletal dysplasia
• COL2A1
• Autosomal dominant
• Genetic testing

See Also

• List of genetic disorders
• List of skeletal disorders

External Links

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