Autozomálně recesivní
Caused by changes in both copies of CDT1, a gene needed to start DNA copying before cell division, which limits growth.
Příznaky a projevy
Short stature beginning before birth, small ears (microtia) and small or absent kneecaps (patellae) are the classic features. Intelligence is usually normal. Less often there are feeding and breathing difficulties in infancy, including lung emphysema; some females have small breasts, and some males have undescended testes or other genital differences.
Co se diagnózou změní
Growth, hearing and orthopaedic review, with feeding and respiratory support in infancy where needed. Carrier testing of relatives and genetic counselling are available.
Analyzované geny
Známé také jako
CDT1 Meier-Gorlin syndrome; Meier-Gorlin syndrome caused by mutation in CDT1; Meier-Gorlin syndrome type 4; MGORS4
