Stüve-Wiedemann Syndrome 1
Autoszomális recesszív
Stüve-Wiedemann syndrome 1 is caused by changes in both copies of LIFR, the receptor for leukaemia inhibitory factor, which is involved in bone development and nerve function. Most reported changes stop the receptor being made.
Tünetek és jelek
Babies have bowed long bones, joint contractures and bent fingers (camptodactyly), together with feeding and swallowing difficulties, breathing problems and episodes of high body temperature. Many babies do not survive infancy. Those who survive may develop worsening leg bowing, spinal curvature, reduced sensitivity to pain, loss of some reflexes and spontaneous bone fractures.
Mit változtat a diagnózis
Care is supportive, with breathing and feeding support, careful temperature management, eye care for dry eyes and orthopaedic follow-up for bone and spine problems. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier and prenatal testing can be offered.
Vizsgált gének
Más néven
neonatal Schwartz-Jampel syndrome; neonatal Schwartz-Jampel syndrome type 2; Schwartz-Jampel syndrome type 2; SJS2; STUVE-Wiedemann syndrome; Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome; STWS; Stüve-Wiedemann dysplasia; Stüve-Wiedemann syndrome; Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome; SWS
