Case Report

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Table 2

List of clinical features observed in Emanuel syndrome [3, 4, 14, 16].

Sl. no.System involvedClinical features of Emanuel syndrome

1 Growth and development Pre and postnatal growth retardation, delayed speech, and language development (more commonly)

2 Craniofacial Microbrachycephaly, prominent forehead, epicanthal folds, downslanting palpebral fissures, broad and flat nasal bridge, long pronounced philtrum, abnormal auricles, preauricular ear pits and/or tags 76%, deafness, and otitis media

3 CNS Microcephaly present most commonly, seizures, failure to thrive, and delayed pschomotor development

4 Cardiac 60% individuals with congenital heart defects like atrial septal defect, ventricular septal defect, Tetralogy of Fallot, and patent ductus arteriosus

5 Genitointestinal Diaphragmatic hernia, anal atresia, inguinal hernias, biliary atresia, small penis 64%, and cryptorchidism 46%

6 Musculoskeletal Centrally based hypotonia most commonly, congenital hip dislocation, arachnodactyly, club foot and joint, syndactyly of the toes, delayed bone age, and hyperextensibility of joints

7 Oral findings Cleft palate 50%, micrognathia 60%, angular mouth pits, bifid uvula, and facial asymmetry

8 Immunological Congenital immunological deficiency

9 Renal Renal defects 36%