Short-Rib Thoracic Dysplasia 11 With or Without Polydactyly
Autoszomális recesszív
Caused by changes in both copies of DYNC2I2 (formerly WDR34), part of the dynein-2 motor that moves proteins within cilia. Faulty cilia disrupt bone growth and the development of other organs.
Tünetek és jelek
A narrow chest with short ribs and short limbs, which can be seen before birth, and breathing difficulty can be severe in infancy. Extra fingers or toes occur in some. Less often there are kidney, liver or retinal problems.
Mit változtat a diagnózis
Breathing support in infancy, and regular monitoring of kidney, liver and eye health. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.
Vizsgált gének
Más néven
SRTD11
