Even though clinical diagnostic criteria have not been 100 percent defined for<unk> , the researchers stated that the certain physical features could relate to KAT6B mutation and result in the molecular genetic testing. The researchers stated that the Individuals with two major features or one major feature and two minor features are likely to have a KAT6B mutation. To diagnose the<unk> , there are multiple ways to evaluate. Medical genetics consultation * Evaluation by developmental specialist * Feeding evaluation * Baseline hearing evaluation * Thyroid function tests * Evaluation of males for cryptorchidism * Orthopedic evaluation if contractures are present or feet/ankles are malpositioned * Hip X-rays to evaluate for femoral head dislocation * Kidney ultrasound examination for hydronephrosis and cysts * Echocardiogram for congenital heart defects * Evaluation for laryngomalacia if respiratory issues are present * Evaluation by gastroenterologist as needed, particularly if bowel malrotation is suspected
Genitopatellar syndrome
Rectovestibular fistula
Ischiopatellar dysplasia
Oculoauricular syndrome
Superior canal dehiscence syndrome
Jugular foramen syndrome
Trigeminal trophic syndrome
Orbital apex syndrome