Syndrome Warkany

Warkany syndrome, also called trisomy 8, is defined as a disorder of genetic origin, with highly variable phenotype, which was first described by Austrian pediatrician and geneticist Joseph Warkany. It is estimated that this condition affects approximately 1: 50,000 newborns.

This syndrome can be total or partial. In the first case, is incompatible with life, causing spontaneous abortion of the fetus. Individuals who survive with trisomy 8 present the same in the form of mosaicism and vary widely in their phenotype and may have mental retardation, growth retardation, craniofacial dimorphism, strabismus, cardiac anomalies, skeletal disorders, spasmodic contractions, groove soles and palms, urethral, ​​renal changes, among others.

Diagnosis and Treatment

The diagnosis can be made before birth (through cytogenetic studies) or after the child's birth, made based on karyotype. It is extremely important for adequate genetic counseling.

Treatment is multidisciplinary and is dependent on the clinical manifestations presented by each patient.