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Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.
Features include common findings: Brachydactyly and Aplasia cutis congenita of scalp; and sometimes findings: Calvarial skull defect, Ventricular septal defect, Cutis marmorata, and Syndactyly. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Liver scarring (fibrosis) (hepatic fibrosis), Esophageal varix, Enlarged spleen (splenomegaly) |
DLL4 encodes delta like canonical Notch ligand 4 (685 aa). Involved in the Notch signaling pathway as Notch ligand. Activates NOTCH1 and NOTCH4. Highest expression in Adipose Subcutaneous (46.1 TPM) and Breast Mammary Tissue (39.1 TPM).
Adams-Oliver syndrome 6 is associated with mutations in the DLL4 gene on chromosome 15.
The DLL4 protein participates in NOTCH1 t(7;9)(NOTCH1:M1580_K2555) does not bind DLL4, NOTCH1 PEST domain mutants bind DLL4, and NOTCH1 HD domain mutants bind DLL4 pathways.
DLL4 is classified as a druggable target (Druggable Genome category) with score 31.3.
Genetic testing for DLL4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 common features.
No clinical trials have been registered for Adams-Oliver syndrome 6.
12 publications have been identified in PubMed for Adams-Oliver syndrome 6. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 50% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Adams-Oliver syndrome 6
Arms and legs |
2 |
Foot oligodactyly, Hypoplastic toenails |
Heart and blood vessels | 2 | Portal hypertension, Ventricular septal defect |
Kidneys and urinary system | 1 | Renal hypoplasia |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
4 |
33% |
Research summaries | 2 | 17% |
He Y (2026). [PMID: 41959640](https://pubmed.ncbi.nlm.nih.gov/41959640/). *Glob Med Genet*. [Basic Science / Preclinical]
Halawani LK (2026). [PMID: 41477812](https://pubmed.ncbi.nlm.nih.gov/41477812/). *Am J Case Rep*. [Case Report / Case Series]
Lehman A (2026). [PMID: 41979051](https://pubmed.ncbi.nlm.nih.gov/41979051/). *Genet Med*. [Basic Science / Preclinical]
Badiu Tișa I (2025). [PMID: 41516051](https://pubmed.ncbi.nlm.nih.gov/41516051/). *Int J Mol Sci*. [Review / Meta-Analysis]
Cabrera R (2025). [PMID: 41040836](https://pubmed.ncbi.nlm.nih.gov/41040836/). *Clin Case Rep*. [Basic Science / Preclinical]
Huang Y (2025). [PMID: 40098638](https://pubmed.ncbi.nlm.nih.gov/40098638/). *Front Pediatr*. [Case Report / Case Series]
Gl S (2025). [PMID: 41552262](https://pubmed.ncbi.nlm.nih.gov/41552262/). *Cureus*. [Case Report / Case Series]
Oral M (2025). [PMID: 41457518](https://pubmed.ncbi.nlm.nih.gov/41457518/). *Ophthalmic Genet*. [Case Report / Case Series]
Yang S (2025). [PMID: 40874655](https://pubmed.ncbi.nlm.nih.gov/40874655/). *Pediatr Dermatol*. [Review / Meta-Analysis]
Solano AF (2025). [PMID: 41055965](https://pubmed.ncbi.nlm.nih.gov/41055965/). *J Clin Invest*. [Basic Science / Preclinical]
AI-curated news mentioning Adams-Oliver syndrome 6
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.