Autoszomális recesszív
Kaya-Barakat-Masson syndrome is caused by changes in both copies of YIF1B, a gene that helps move proteins within cells, between the endoplasmic reticulum and the Golgi apparatus.
Tünetek és jelek
Severe global developmental delay with very limited or absent speech and intellectual disability is typical, along with a small head, low muscle tone and stiffness of the limbs, and movement disorders. Seizures are common, and brain scans can show nonspecific abnormalities. Eye problems such as strabismus or visual impairment can also occur.
Mit változtat a diagnózis
Care is supportive, with seizure and movement disorder treatment, feeding therapy, and developmental and educational support. 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
KABAMAS
