Acrofrontofacionasal dysostosis

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Acrofrontofacionasal dysostosis
Autosomal recessive - en.svg
Synonyms Acrofrontofacionasal syndrome
Pronounce N/A
Specialty N/A
Symptoms Craniofacial dysostosis, limb abnormalities, intellectual disability
Complications Developmental delay, hearing loss
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history of the condition
Diagnosis Clinical examination, genetic testing
Differential diagnosis Apert syndrome, Crouzon syndrome
Prevention Genetic counseling
Treatment Supportive care, surgical intervention
Medication None specific
Prognosis Variable, depending on severity
Frequency Rare
Deaths N/A


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[edit | edit source]

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

Genetics[edit | edit source]

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[edit | edit source]

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[edit | edit source]

Management of acrofrontofacionasal dysostosis is multidisciplinary and may involve:

Prognosis[edit | edit source]

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.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD