Adams–Nance syndrome

Adams–Nance Syndrome

Diagram of autosomal recessive inheritance pattern

Adams–Nance syndrome is a rare genetic disorder characterized by a combination of congenital anomalies. It is inherited in an autosomal recessive pattern, meaning that two copies of the defective gene, one from each parent, are necessary for the syndrome to manifest in the offspring.

Clinical Features

Adams–Nance syndrome presents with a variety of clinical features that can vary in severity among affected individuals. Common features include:

• Craniofacial abnormalities: These may include microcephaly, cleft palate, and distinctive facial features.
• Skeletal anomalies: Patients may exhibit limb malformations, such as syndactyly or polydactyly.
• Neurological issues: Developmental delays and intellectual disability are often observed.
• Cardiac defects: Some individuals may have congenital heart defects.

Genetic Basis

The syndrome is caused by mutations in a specific gene, which has yet to be fully identified. The autosomal recessive inheritance pattern indicates that both parents of an affected individual are carriers of one copy of the mutated gene but typically do not show symptoms of the disorder themselves.

Diagnosis

Diagnosis of Adams–Nance syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the associated gene. Prenatal diagnosis may be possible if the genetic mutation is known in the family.

Management

Management of Adams–Nance syndrome is symptomatic and supportive. It may involve:

• Surgical interventions for craniofacial and skeletal anomalies.
• Early intervention programs to address developmental delays.
• Regular monitoring and treatment of cardiac defects.

Prognosis

The prognosis for individuals with Adams–Nance syndrome varies depending on the severity of symptoms and the presence of associated complications. Early diagnosis and intervention can improve outcomes and quality of life.

Related Pages

• Genetic disorder
• Autosomal recessive disorder
• Congenital anomaly