Multiple congenital anomalies and craniofacial dysmorphism are characterizing the so-called Emanuel or supernumerary der(22)t(11;22) syndrome (OMIM609029). Mental and developmental retardation are major clinical features. [ncbi.nlm.nih.gov]

Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tags or pits, and conotruncal heart defects. [en.wikipedia.org]

Additionally, arachnodactyly, hyperextensibility of hand joints, abnormal deep palmar and finger creases, extra finger creases and bilateral talipus were evident and not previously described with this syndrome. [ncbi.nlm.nih.gov]

Zaki et al. have recently also reported hyper-extensibility of the joints of the hands and arachnodactyly in some patients with ES. [11] Bilateral talipes may also be seen. In addition, scoliosis and kyphosis affect nearly 1/3 rd of the patients. [pediatricneurosciences.com]

Musculoskeletal defects Most commonly, centrally based hypotonia, congenital hip dislocation, arachnodactyly, club foot and joint, syndactyly of the toes, delayed bone age and hyperextensibility of joints Hypotonia, scoliosis, kyphosis 7. [degruyter.com]

severe developmental delays, poor growth, and multiple congenital anomalies) almost always have supernumerary der(22). [ncbi.nlm.nih.gov]

Most had feeding difficulties with gastroesophageal reflux and/or constipation, resulting in poor growth. Psychomotor development was uniformly delayed. [omim.org]

Heart defects include atrial septal defect, ventricular septal defect, tetralogy of Fallot, truncus arteriosus, tricuspid atresia, coarctation of the aorta, aberrant subclavian artery, persistent left superior vena cava, and patent ductus arteriosus. [ncbi.nlm.nih.gov]

The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive. [checkorphan.org]

Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. [ncbi.nlm.nih.gov]

Signs and symptoms vary but can include weak muscle tone and failure to thrive in infancy, developmental delays, severe to profound intellectual disability, small head size, distinctive facial features, small lower jaw, ear abnormalities (e.g., preauricular [diseaseinfosearch.org]

Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). [ghr.nlm.nih.gov]

impairment Severe deafness Severe hearing loss [ more ] 0012714 Submucous cleft lip 0009101 Unilateral renal agenesis Absent kidney on one side Missing one kidney Single kidney [ more ] 0000122 Ventricular septal defect Hole in heart wall separating [rarediseases.info.nih.gov]

impairment, unilateral renal agenesis, ventricular septal defect (hole in the wall separating the two lower chambers of the heart), facial asymmetry, kyphosis, hypoplasia of corpus callosum, muscular hypotonia, renal agenesis and thickened nuchal skin [xpertdox.com]

Hearing impairments are common, and most children do not learn to speak. The majority of these children have special healthcare needs. Not every parent who has a balanced translocation will give birth to a child with this disorder. [wisegeek.net]

delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dental crowding Crowded teeth Dental overcrowding Overcrowding [rarediseases.info.nih.gov]

Cusmano-Ozog K, Manning MA, Hoyme HE. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):393-8. Review. [ghr.nlm.nih.gov]

Early intervention (occupational therapy, physical therapy) and speech therapy/the introduction of sign language should be instituted by age one year or at presentation in childhood because of the high risk for motor, cognitive, speech, and language delay [ncbi.nlm.nih.gov]

Males often have cryptorchidism, small scrotum, and micropenis. Uterine malformations can occasionally be observed in females. Gastrointestinal. Diaphragmatic hernia and hypoplasia or eventration of the diaphragm have been observed. [ncbi.nlm.nih.gov]

Significant mortality is associated with life-threatening congenital malformations such as congenital heart defects, diaphragmatic hernia, or renal insufficiency. The highest mortality rate is in the first months of life. [ncbi.nlm.nih.gov]

Delayed bone age is mentioned in a few reports. Eyes. Most persons with Emanuel syndrome have normal vision. Although uncommon, eye abnormalities have included strabismus and myopia. Ptosis and degenerative retinal changes are less common. CNS. [ncbi.nlm.nih.gov]

Musculoskeletal defects Most commonly, centrally based hypotonia, congenital hip dislocation, arachnodactyly, club foot and joint, syndactyly of the toes, delayed bone age and hyperextensibility of joints Hypotonia, scoliosis, kyphosis 7. [degruyter.com]

kidneys Underdeveloped kidneys [ more ] 0000089 Sacral dimple Spinal dimple 0000960 Severe hearing impairment Severe deafness Severe hearing loss [ more ] 0012714 Submucous cleft lip 0009101 Unilateral renal agenesis Absent kidney on one side Missing [rarediseases.info.nih.gov]

These included single kidney, echogenic kidney, multicystic dysplastic kidney/small kidneys, calculi, bladder wall thickening, horseshoe kidney, duplicated collecting system, renal tubular acidosis, hydronephrosis (5%), and enuresis. [ncbi.nlm.nih.gov]