Nager acrofacial dysostosis
Nager acrofacial dysostosis (pronunciation: nā-jer ak-ro-fā-shəl dī-səs-tō-səs) is a rare genetic disorder characterized by severe malformations of the craniofacial region and limbs. The term acrofacial refers to the involvement of the face and the extremities.
Etymology
The condition is named after the Swiss pediatrician, Ferdinand Nager, who first described the syndrome in 1948. The term acrofacial is derived from the Greek words akron (extremity) and opsis (face), while dysostosis comes from the Greek words dys (bad or difficult) and ostosis (condition of the bone).
Symptoms
The most common symptoms of Nager acrofacial dysostosis include micrognathia (small lower jaw), downslanting palpebral fissures (downward slant of the eye openings), malar hypoplasia (underdevelopment of the cheekbones), and limb abnormalities such as radial aplasia (absence of the radius bone in the forearm).
Diagnosis
Diagnosis of Nager acrofacial dysostosis is typically based on a clinical evaluation, detailed patient history, and specialized tests such as genetic testing and imaging studies.
Treatment
Treatment for Nager acrofacial dysostosis is symptomatic and supportive, often requiring the skills of a team of specialists. Interventions may include surgical correction of craniofacial and limb abnormalities, speech therapy, and hearing aids for those with hearing loss.
Prognosis
The prognosis for individuals with Nager acrofacial dysostosis varies. Some individuals may have normal intelligence and lifespan, while others may experience developmental delays and life-threatening complications such as respiratory problems.
See also
External links
- Medical encyclopedia article on Nager acrofacial dysostosis
- Wikipedia's article - Nager acrofacial dysostosis
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