Management

These evaluations should be considered following initial diagnosis:
•    Developmental assessment
•    Dental examination
•    Skeletal survey
•    Hearing assessment
•    Echocardiography
•    Neurology consultation, with brain imaging as indicated
•    Otorhinolaryngology consultation
•    Endocrinology consultation
•    Orthopedics consultation as indicated (e.g. club feet)

There is currently no specific treatment for individuals with biallelic POLR3GL variants.