Currently, there are no official guidelines specifically tailored for the care of individuals with CNOT2-related disorder. However, it is recommended to have an evaluation and ongoing follow-up by a developmental pediatrician to comprehensively assess the child's phenotype, address their specific needs, and monitor their progress. Additionally, a multidisciplinary approach involving occupational, physical, speech, as well as infant mental health services and special educators, may prove beneficial in supporting the individual's development and well-being. It is recommended that the pediatrician closely monitors feeding and growth parameters during the early years of life. If there is a suspicion of skeletal defects, notably scoliosis, it is advisable to seek a specialized evaluation and follow-up. While heart malformations seem to occur only in a minority of patients, considering a cardiac evaluation is still worth discussing. Apart from their possible involvement in the diagnostic process, clinical geneticists / genetic counselors will provide genetic counseling to the family.
CNOT2