In addition to scalp defects, fingers or toes and sometimes other associated features, Adams-Oliver Syndrome (AOS) is a rare congenital disorder. The causes, symptoms, diagnosis, treatment, and prevention of AOS are covered in this straightforward overview.
Causes
Specifically, mutations in genes involved in blood vessel development and skin development are responsible for AOS. As a result of these mutations, blood vessels and skin fail to develop normally during embryonic development, resulting in AOS' characteristic features. AOS occurs sporadically, which means it occurs at random and is not inherited from parents. It is also possible for AOS to be inherited in an autosomal dominant manner, which means only one copy of the mutated gene is sufficient to cause the disease.
Symptoms
Adams-Oliver Syndrome is characterized by the following symptoms:
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Defects of the scalp can range in severity and size from mild skin abnormalities (such as patches of hair loss) to more severe defects (such as exposed skull bones).
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In individuals with AOS, there may be missing fingers and/or toes (partial or complete absence), unusually short fingers and/or toes, fused fingers and/or toes (syndactyly), or other malformations of the hands and/or feet.
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As well as scalp and limb abnormalities, individuals with AOS may also have heart defects, eye abnormalities, developmental delays, or intellectual disabilities associated with the disorder. Among affected individuals, severity and combination of features can vary widely.
Diagnosis
Diagnostic assessments may include clinical evaluations, imaging studies, and genetic testing for Adams-Oliver Syndrome.
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Examination of the scalp, hands, and feet to look for signs of AOS, such as scalp defects and limb abnormalities.
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The extent of scalp defects, limb abnormalities, or other associated features may be evaluated using imaging tests such as ultrasound, X-rays, or MRI.
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AOS genes, such as ARHGAP31, DOCK6, EOGT, and NOTCH1, may be tested for mutations. It is possible to confirm the diagnosis and discover the inheritance pattern of AOS by identifying specific genetic mutations.
Treatment
Adams-Oliver Syndrome is treated by managing symptoms and addressing complications. Options include:
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Surgical procedures can be performed to repair scalp defects and improve cosmetic appearance, especially in cases of extensive scalp involvement.
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Individuals with limb malformations may benefit from orthopedic interventions such as prosthetic devices, orthotics, or surgical correction of their limb abnormalities.
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Medical interventions, surgical procedures, or supportive therapies may be used to treat complications such as heart defects, eye abnormalities, or developmental delays.
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Individuals and families affected by AOS may benefit from genetic counseling, which explains the genetic basis of the disorder, recurrence risk, and testing options available to them.
Prevention
Adams-Oliver Syndrome is primarily caused by genetic mutations, so there are currently no specific preventive measures available to prevent it. Individuals with a family history of AOS or known genetic mutations associated with the disorder may be offered genetic counseling and prenatal testing to assess their risk of recurrence in future pregnancies as well as options for testing.
