Can be inherited in a dominant way (for example through NOTCH1) or a recessive way (for example through DOCK6). The genes involved affect blood vessel development and cell signalling in the embryo. Dominant forms show variable severity, even within a family.
Příznaky a projevy
The main features are aplasia cutis congenita, an area of absent skin and sometimes underlying skull bone on the scalp, and terminal transverse limb defects such as short or missing fingers and toes. Marbled, mottled skin (cutis marmorata) can occur in some infants, and cardiovascular malformations occur in about 23% of people. Less often there are brain abnormalities, seizures, developmental delay or eye problems, which are more typical of recessive forms such as DOCK6.
Co se diagnózou změní
Care involves wound and scalp management, sometimes surgery for skull defects, limb assessment and heart and brain imaging. Genetic counselling helps clarify whether a family's form is dominant (a 1 in 2 chance of passing it on) or recessive (parents are carriers), and guides testing of relatives.
Známé také jako
AOS; congenital scalp defects with distal limb anomalies; congenital scalp defects with distal limb reduction anomalies; limb scalp and skull defects
Zahrnuty jsou také specifické formy
Zahrnuje 6 příbuzných podtypů ↓Skrýt podtypy ↑
- Adams-Oliver syndrome 1
- Adams-Oliver syndrome 2
- Adams-Oliver syndrome 3
- Adams-Oliver syndrome 4
- Adams-Oliver syndrome 5
- Adams-Oliver syndrome 6
