Adams–Oliver syndrome

Adams–Oliver Syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (aplasia cutis congenita), transverse limb defects, and mottled skin appearance. First described in 1945 by Dr. Forrest H. Adams and Dr. Clarence Paul Oliver, AOS presents with a spectrum of clinical features that can vary significantly among affected individuals.

Epidemiology

AOS is an uncommon condition, with an estimated incidence of approximately 1 in 225,000 live births. It affects individuals of all genders and ethnic backgrounds equally. Due to its rarity, precise prevalence data are limited.

Clinical Features and Diagnosis

Major Clinical Features

• 1. Aplasia Cutis Congenita (ACC): Congenital absence of skin, typically on the scalp vertex, leading to localized areas devoid of skin and, in severe cases, underlying bone.
• 2. Limb Malformations: These may include:
  • Syndactyly: Fusion of fingers or toes.
  • Brachydactyly: Shortened digits.
  • Oligodactyly: Missing fingers or toes.
  • Hypoplastic or Absent Nails: Underdeveloped or missing nails.

Minor Clinical Features

• Cutis Marmorata Telangiectatica Congenita (CMTC): A vascular anomaly presenting as a reddish or purplish net-like pattern on the skin.
• Congenital Heart Defects: Structural anomalies of the heart present at birth.
• Vascular Anomalies: Including abnormalities in blood vessels, which can lead to complications such as pulmonary hypertension.

Diagnosis

The diagnosis of AOS is primarily clinical, based on the presence of characteristic features. A proposed diagnostic criterion includes:

• Major Criteria:
• Terminal transverse limb defects.
• Aplasia cutis congenita.
• Family history of AOS.

Minor Criteria:

• Cutis marmorata.
• Congenital heart defect.
• Vascular anomaly.

A diagnosis is considered definitive with the presence of two major criteria or one major and one minor criterion. Genetic testing can identify mutations in known associated genes, aiding in diagnosis, especially in atypical cases.

Genetic Basis and Pathophysiology

AOS exhibits genetic heterogeneity with both autosomal dominant and autosomal recessive inheritance patterns. Mutations in several genes have been implicated:

• ARHGAP31: Encodes a GTPase-activating protein involved in cytoskeletal organization.
• DOCK6: Functions as a guanine nucleotide exchange factor, regulating actin cytoskeleton dynamics.
• RBPJ, EOGT, NOTCH1, DLL4: These genes are components of the Notch signaling pathway, crucial for vascular development and cellular differentiation.

Disruptions in these genes affect vascular development and integrity, leading to the diverse manifestations of AOS.

Management and Prognosis

Management

Treatment is symptomatic and multidisciplinary:

• Scalp Defects: Management ranges from conservative care with dressings to surgical interventions like skin grafting, depending on severity.
• Limb Anomalies: Orthopedic interventions, including prosthetics or corrective surgeries, aim to improve function and appearance.
• Cardiac and Vascular Issues: Regular monitoring and appropriate medical or surgical treatments are essential for congenital heart defects and vascular anomalies.

Genetic counseling is recommended for affected families to discuss inheritance patterns, recurrence risks, and family planning options.

Prognosis

The prognosis for individuals with AOS varies based on the severity of manifestations. While many lead normal lives with appropriate management, severe cases involving significant cardiac or vascular anomalies may have increased morbidity and mortality risks. Early detection and a tailored, multidisciplinary approach are crucial for optimizing outcomes.

See Also

• Aplasia cutis congenita
• Cutis marmorata telangiectatica congenita
• Syndactyly
• Brachydactyly
• Notch signaling pathway

External links

Classification	ICD-10: Q87.2 OMIM: 100300 MeSH: C538225 DiseasesDB: 32741
External resources	Orphanet: 974

NIH genetic and rare disease info

• NIH info on Adams–Oliver syndrome

Adams–Oliver syndrome is a rare disease.

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