Autoszomális recesszív · Only a small number of families have been reported.
Caused by changes in both copies of the MYO18B gene, which encodes a myosin protein. Muscle samples show abnormal myosin filaments.
Tünetek és jelek
Muscle weakness, mainly affecting the proximal leg muscles, with fused bones in the neck (Klippel-Feil anomaly) and short stature. Distinctive facial features, including drooping eyelids (ptosis) and a bulbous nose, are seen in most people.
Mit változtat a diagnózis
Physiotherapy and supportive care, with orthopaedic follow-up for the spine. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Vizsgált gének
Más néven
KFS4; Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
