Acromesomelic dysplasia Campailla Martinelli type
= = Acromesomelic Dysplasia Campailla Martinelli Type ==
Acromesomelic Dysplasia Campailla Martinelli Type is a rare genetic disorder characterized by skeletal abnormalities primarily affecting the limbs. This condition is part of a group of disorders known as acromesomelic dysplasias, which are distinguished by disproportionate shortening of the middle (mesomelic) and end (acromelic) segments of the limbs.
Clinical Features[edit | edit source]
Individuals with Acromesomelic Dysplasia Campailla Martinelli Type typically present with:
- Short stature: Affected individuals often have a significantly reduced height compared to their peers.
- Limb shortening: The shortening is most pronounced in the forearms and lower legs, leading to a characteristic appearance.
- Joint abnormalities: Limited range of motion and joint deformities may be present.
- Facial features: Some individuals may exhibit distinctive facial features, although these are less pronounced than in other types of skeletal dysplasia.
Genetic Basis[edit | edit source]
This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The specific gene mutation responsible for Acromesomelic Dysplasia Campailla Martinelli Type has not been fully elucidated, but it is believed to involve genes that play a role in bone development and growth.
Diagnosis[edit | edit source]
Diagnosis is typically based on clinical evaluation, family history, and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes.
Management[edit | edit source]
There is currently no cure for Acromesomelic Dysplasia Campailla Martinelli Type. Management focuses on addressing symptoms and may include:
- Orthopedic interventions: To improve mobility and correct deformities.
- Physical therapy: To enhance joint function and muscle strength.
- Regular monitoring: To assess growth and development and manage complications.
Prognosis[edit | edit source]
The prognosis for individuals with Acromesomelic Dysplasia Campailla Martinelli Type varies depending on the severity of the condition and the presence of associated complications. With appropriate management, many individuals can lead relatively normal lives.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic and molecular mechanisms underlying this condition, which may lead to improved diagnostic and therapeutic options in the future.
See Also[edit | edit source]
External Links[edit | edit source]
- [Genetic and Rare Diseases Information Center]
- [National Organization for Rare Disorders]
NIH genetic and rare disease info[edit source]
Acromesomelic dysplasia Campailla Martinelli type is a rare disease.
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Contributors: Prab R. Tumpati, MD
