PRIMARY CARE
Recommendation 1
Monitoring for symptoms on a yearly basis is recommended.
Adams-Oliver Syndrome
Not Verified
Disease overview
A rare inherited condition present at birth that involves changes to the limbs and scalp.
Common symptoms
Most common are aplasia cutis congenitashortened or missing fingershandstoes and/or feetheart problems present at birthneurological concerns such as developmental delays and learning disabilitieskidney issues and eye problems. [ ]
WHEN TO SUSPECT
Recommendation 1
The absence of skin or malformation of the fingers, hands, toes, and/or feet, and a single mutation in the autosomal dominant related gene.
HOW TO TEST
Recommendation 1
The absence of skin or malformation of the fingers, hands, toes, and/or feet, and a single mutation in the autosomal dominant related gene.
TREATMENT
Recommendation 1
Directed towards the specific symptoms that are apparent in an individual and may require the coordinated efforts of a team of specialists.
FURTHER SUPPORT
Recommendation 1
None currently available. . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
CLINICAL TRIALS
Recommendation 1
None currently available.
Sources
No data available
Interested in learning more about Adams-Oliver Syndrome?
Follow to receive regular updates to the latest research development on this disease via email newsletter.