Lethal Congenital Contracture Syndrome 11
Autoszomális recesszív
Caused by changes in both copies of GLDN (gliomedin), a protein that helps form the nodes of Ranvier, the gaps along insulated nerve fibres.
Tünetek és jelek
Reduced fetal movement and joint contractures (arthrogryposis) present at birth, with breathing problems linked to underdeveloped lungs. Many affected babies do not survive the newborn period. Some survive with intensive care and chronic breathing support, but can develop progressive muscle and breathing problems in later childhood or adolescence.
Mit változtat a diagnózis
Severe forms may be found on prenatal ultrasound; newborns need specialist intensive care, and survivors benefit from respiratory support, physiotherapy and orthopaedic care. Parents are carriers, so carrier testing for relatives, genetic counselling and options in future pregnancies are available.
Vizsgált gének
Más néven
GLDN lethal congenital contracture syndrome; LCCS11; lethal congenital contracture arthrogryposis-11; lethal congenital contracture syndrome 11; LCCS11; lethal congenital contracture syndrome caused by mutation in GLDN; lethal congenital contracture syndrome type 11
