Adams–Nance syndrome

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Adams–Nance syndrome
Autosomal recessive - en.svg
Synonyms
Pronounce
Specialty Medical genetics
Symptoms Craniosynostosis, syndactyly, mental retardation
Complications N/A
Onset
Duration
Types
Causes Genetic mutation
Risks
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment Surgical intervention, supportive care
Medication
Prognosis Variable
Frequency Rare
Deaths


Adams–Nance Syndrome[edit | edit source]

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[edit | edit source]

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

Genetic Basis[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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.

See Also[edit | edit source]

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Contributors: Prab R. Tumpati, MD