From the Research
Adams-Oliver syndrome is a rare congenital disorder characterized by the combination of congenital scalp defects and terminal transverse limb defects, with potential for additional features such as cardiovascular malformations and orofacial malformations. The condition is typically inherited in an autosomal dominant pattern, though autosomal recessive cases have been reported 1, 2. Management requires a multidisciplinary approach involving dermatologists, plastic surgeons, orthopedic specialists, and geneticists. Treatment is primarily supportive and focuses on addressing specific manifestations, such as scalp defects which may require surgical intervention with skin grafts or tissue expansion techniques, while limb abnormalities often necessitate orthopedic management, possibly including prosthetics or adaptive devices 3.
Key features of Adams-Oliver syndrome include:
- Congenital scalp defects (aplasia cutis congenita)
- Terminal transverse limb defects
- Potential for cardiovascular malformations and orofacial malformations
- Cutis marmorata telangiectatica congenita (a marble-like appearance of the skin)
- Neurological issues
The syndrome results from mutations in several genes including ARHGAP31, DOCK6, RBPJ, EOGT, and NOTCH1, which are involved in critical developmental pathways affecting skin and limb formation 4, 5. Early genetic counseling is recommended for affected individuals and families to understand inheritance patterns and recurrence risks. Anesthetic and airway management considerations should be carefully assessed prior to surgery due to possible orofacial abnormalities that may make intubation difficult 5.
In terms of morbidity, mortality, and quality of life, early diagnosis and multidisciplinary management are crucial to improve outcomes and reduce complications. With proper care, individuals with Adams-Oliver syndrome can lead active and productive lives, although they may require ongoing medical attention and supportive care to manage their condition.