SMC1A, SMC3 and RAD21 proteins are structural components of the cohesin ring complex. NIPBL is involved in the loading of the cohesin ring onto chromosomes, and HDAC8 deacylates SMC3 to facilitate its function. The cohesin pathway is involved in cohesion of sister chromatids during mitosis, DNA repair, chromosome segregation and the regulation of developmental gene expression. Defects in these functions are theorised to underlie some of the features of CdLS. In particular, defective DNA repair may underlie the features of premature aging. Diagnosis
The diagnosis of CdLS is primarily based on clinical findings by a clinical geneticist; and in some cases may be confirmed through laboratory testing. Treatment
Often, an interdisciplinary approach is recommended to treat the issues associated with CdLS. A team for promoting the childs well-being often includes speech, occupational and physical therapists, teachers, physicians, and parents.Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person.
Undervirilization is a medical term describing the state of a male whose body, especially the genitalia, shows evidence of below-normal prenatal (less commonly pubertal) androgen effects. See virilization for a more detailed description of the normal process and newborn status. See also
Sexual differentiation
Defeminization and masculinization
Defeminization
Feminization


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