Ventriculomegaly and Arthrogryposis
Autoszomális recesszív
Caused by changes in both copies of KIDINS220, a transmembrane protein in neuronal signalling pathways that helps regulate cerebrospinal fluid. A single new change in KIDINS220 causes a different condition with spastic paraplegia, intellectual disability, nystagmus and obesity (SINO syndrome).
Tünetek és jelek
Enlarged brain ventricles and joint contractures in the limbs are usually seen on prenatal ultrasound. Many pregnancies end before birth or in the newborn period. In the first living child reported with this form, there was profound developmental delay and spasticity.
Mit változtat a diagnózis
Specialist fetal medicine care and counselling when found in pregnancy. Parents are usually carriers, so carrier testing for relatives, genetic counselling and options in future pregnancies are available.
Vizsgált gének
