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| Disease found: | Adams-Oliver Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare inherited condition present at birth that involves changes to the limbs and scalp. [more info] |
| Signs and Symptoms: | Most common are aplasia cutis congenita; shortened or missing fingers, hands, toes and/or feet; heart problems present at birth; neurological concerns such as developmental delays and learning disabilities; kidney issues and eye problems. [more info] |
| Diagnosis: | The absence of skin or malformation of the fingers, hands, toes, and/or feet, and a single mutation in the autosomal dominant related gene. [more info] |
| Treatment: | Directed towards the specific symptoms that are apparent in an individual and may require the coordinated efforts of a team of specialists. [more info] |
| Clinical Management: | Monitoring for symptoms on a yearly basis is recommended. [more info] |
| Referral: | None currently available. [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None currently available. [more info] |