Agenesis of Corpus Callosum, Cardiac, Ocular and Genital Syndrome
Autozomálně dominantní
ACOGS is caused by a change in one copy of CDH2, which makes N-cadherin, a protein that helps cells stick together and guides nerve fibres as the brain develops. Most reported changes have arisen new (de novo) in the affected person.
Příznaky a projevy
Developmental delay and intellectual disability of varying degree are common, often with absent or underdeveloped corpus callosum (the band linking the two halves of the brain) and other brain differences. Eye findings include problems with eye movement (such as Duane anomaly), corneal opacity (Peters anomaly), and congenital heart defects and genital differences are also reported. Mirror movements are also described.
Co se diagnózou změní
Management includes heart, eye and genital assessment, brain imaging and developmental, educational and therapy support, with seizures treated if they occur. Most cases arise de novo, but a parent can carry the change, so genetic counselling and parental testing help clarify recurrence risk.
Analyzované geny
Známé také jako
ACOGS
