Acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis

Diagram of autosomal recessive inheritance pattern

Acrofrontofacionasal dysostosis is a rare genetic disorder characterized by distinctive craniofacial abnormalities, limb malformations, and other systemic manifestations. This condition is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected.

Clinical Features

Individuals with acrofrontofacionasal dysostosis typically present with a combination of craniofacial and skeletal abnormalities. Common features include:

• Craniosynostosis: Premature fusion of the skull bones, leading to an abnormal head shape.
• Hypertelorism: Increased distance between the eyes.
• Midface hypoplasia: Underdevelopment of the middle facial region.
• Nasal anomalies: Such as a broad nasal bridge or bifid nose.
• Limb abnormalities: Including syndactyly (fusion of fingers or toes) and brachydactyly (short fingers or toes).

Genetics

Acrofrontofacionasal dysostosis is caused by mutations in specific genes that are involved in craniofacial and limb development. The condition follows an autosomal recessive inheritance pattern, which means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms themselves.

Diagnosis

Diagnosis of acrofrontofacionasal dysostosis is based on clinical evaluation, family history, and genetic testing. Imaging studies such as X-rays or CT scans may be used to assess craniofacial and skeletal abnormalities.

Management

Management of acrofrontofacionasal dysostosis is multidisciplinary and may involve:

• Surgical intervention: To correct craniofacial deformities and limb abnormalities.
• Orthopedic care: For limb malformations.
• Genetic counseling: For affected families to understand the inheritance pattern and risks for future pregnancies.

Prognosis

The prognosis for individuals with acrofrontofacionasal dysostosis varies depending on the severity of the symptoms and the presence of associated complications. Early intervention and supportive care can improve quality of life and functional outcomes.

Related pages

• Craniosynostosis
• Hypertelorism
• Syndactyly
• Genetic counseling