Meier-Gorlin Syndrome 3
Autoszomális recesszív
Meier-Gorlin syndrome 3 is caused by changes in both copies of ORC6, part of the origin recognition complex that starts DNA copying before cells divide. The gene is also needed for cells to separate during division (cytokinesis).
Tünetek és jelek
Small ears (microtia), small or absent kneecaps and short stature starting before birth are the classic features. Most people have normal intelligence. Less often there are feeding and breathing difficulties in infancy, underdeveloped breasts, genital differences or joint problems.
Mit változtat a diagnózis
Management includes growth and nutritional monitoring, hearing assessment, orthopaedic review of the knees, and attention to feeding and breathing in infancy. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.
Vizsgált gének
Más néven
Meier-Gorlin syndrome caused by mutation in ORC6; Meier-Gorlin syndrome type 3; MGORS3; ORC6 Meier-Gorlin syndrome
