Emanuel Syndrome

Excerpt

Clinical characteristics: Emanuel syndrome is characterized by pre- and postnatal growth deficiency, microcephaly, hypotonia, severe developmental delays, ear anomalies, preauricular tags or pits, cleft or high-arched palate, congenital heart defects, kidney abnormalities, and genital abnormalities in males.

Diagnosis/testing: The diagnosis of Emanuel syndrome is established in a proband by detection of a duplication of 22q10-22q11 and duplication of 11q23-qter on a supernumerary derivative chromosome 22 [der(22)].

Management: Treatment of manifestations: Care by a multidisciplinary team is usually necessary; standard management of gastroesophageal reflux, nutrition, anal atresia (or stenosis), inguinal hernias, cardiac defects, cleft palate, hip dysplasia, other skeletal complications, hearing loss, cryptorchidism and/or micropenis, refractive errors, and strabismus or other ophthalmologic issues; ongoing physical, occupational, and speech therapies; alternative communication methods to facilitate communication.

Prevention of secondary complications: Attention to the airway during sedation and/or operative procedures in an institution with pediatric anesthesiologists.

Surveillance: Follow up as needed based on the extent of systemic involvement in each individual; regular developmental assessments; periodic reevaluation by a clinical geneticist.

Genetic counseling: In more than 99% of cases, one of the parents of a proband with Emanuel syndrome is a balanced carrier of a t(11;22)(q23;q11.2) and is phenotypically normal. In most cases, a carrier parent has inherited the t(11;22) from a parent. When one of the parents of a proband is a carrier of the balanced t(11;22), possible outcomes of future pregnancies of the proband's parents include: normal chromosomes, supernumerary der(22) syndrome, balanced t(11;22) carrier, and spontaneous abortion as a result of supernumerary der(22) or another meiotic malsegregant. Risks vary depending on whether the mother or father of a proband is the balanced translocation carrier. Prenatal testing for a pregnancy at increased risk is possible if the chromosome abnormality has been confirmed in the family.