You are using an outdated browser. Please upgrade your browser to improve your experience.

Adams-Oliver syndrome 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.
Uniprot Description A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.
Mondo Term and Equivalent IDs
MONDO:0014703:  Adams-Oliver syndrome 6
UMLS:C4225271: