Adams-Oliver syndrome is a rare genetic disorder characterized by the absence of skin (aplasia cutis congenita) and malformations of the limbs. It is estimated to affect approximately 1 in 225,000 to 1 in 250,000 live births worldwide. The prevalence of this syndrome varies among different populations and ethnicities. The condition is usually sporadic, but familial cases have also been reported. The exact cause of Adams-Oliver syndrome is not fully understood, but it is believed to involve mutations in certain genes. Early diagnosis and appropriate medical management are crucial for individuals affected by this syndrome.
Adams-Oliver syndrome (AOS) is a rare genetic disorder characterized by the combination of scalp defects (such as missing skin, hair, or skull bones) and limb abnormalities (such as missing fingers or toes). The prevalence of AOS varies across different populations and geographical regions.
Although exact prevalence rates are challenging to determine due to the rarity of the condition, studies suggest that AOS affects approximately 1 in 225,000 to 250,000 live births worldwide. It is important to note that prevalence may differ among different ethnic groups and populations.
AOS is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, sporadic cases can also occur without a family history of the syndrome.
Diagnosis of AOS is often made based on clinical examination, medical history, and genetic testing. Management of the syndrome involves addressing the specific symptoms and associated complications through a multidisciplinary approach, including surgical interventions, physical therapy, and genetic counseling.
While Adams-Oliver syndrome is considered rare, it is crucial for healthcare professionals and families to be aware of its existence and seek appropriate medical care and support.