Primary care
Recommendation 1
Monitoring for symptoms on a yearly basis is recommended.
Adams-Oliver Syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
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
Clinical Trials
Sources
No data available
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