Skeletal dysplasia

Gene: DLL4

Green List (high evidence)

Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot.

More than 10 unrelated families reported, animal model.

Created: 9 Nov 2021, 4:34 a.m. | Last Modified: 9 Nov 2021, 4:34 a.m.

Panel Version: 0.9664

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 6 MIM#616589

Publications

• 26299364
• 33899511
• 31261205
• 29924900