How is it diagnosed?
The diagnosis is based on the identification of compatible clinical signs, neuroimaging studies, family history compatible with autosomal recessive inheritance, molecular genetic analysis, if any. This disease has wide phenotypic variability and genotypic heterogeneity. It is now known that changes at the level of several genes are associated with the Seckel phenotype (RBBP8, CENPJ, CEP63, CEP152, ATR, NIN). Targeted molecular genetic testing can confirm the diagnosis.
How is it treated?
Therapy consists in solving individual problems that may arise, first of all, in the treatment of mental retardation.