Adams-Oliver syndrome
Findings
No curated finding names Adams-Oliver syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.
Definition from the Mondo Disease Ontology (MONDO:0007034), read 2026-09-29. CC BY 4.0.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
- Absent handHPOHP:0004050
- Very frequent (80% to 99% of cases)
- Absent toeHPOHP:0010760
- Very frequent (80% to 99% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Calvarial skull defectHPOHP:0001362
- Very frequent (80% to 99% of cases)
- Cutis marmorataHPOHP:0000965
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Abnormal pulmonary valve morphologyHPOHP:0001641
- Frequent (30% to 79% of cases)
Show the remaining 34
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- MicrophthalmiaHPOHP:0000568
- Frequent (30% to 79% of cases)
- Pulmonary artery atresiaHPOHP:0004935
- Frequent (30% to 79% of cases)
Genes
6 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DOCK6HGNC:19189
- Definitive · ClinGen · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- NOTCH1HGNC:7881
- Definitive · Illumina · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- ARHGAP31HGNC:29216
- Supportive · Orphanet · Autosomal dominant · 2021
- DLL4HGNC:2910
- Supportive · Orphanet · Autosomal dominant · 2021
- EOGTHGNC:28526
- · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: Adams-Oliver syndrome
- Also called
- AOScongenital scalp defects with distal limb anomaliescongenital scalp defects with distal limb reduction anomalieslimb, scalp and skull defects