Symptoma

Emanuel Syndrome

Der(22)t(11;22) Syndrome

We present two cases involving pediatric patients with Emanuel syndrome. The first patient presented with micrognathia and had patent ductus arteriosus and a single kidney. [ncbi.nlm.nih.gov]

Part of chromosome 11 is also present three times instead of the usual two times, from the 11q23.3 section down to the end. [emanuelsyndrome.org]

Overall the present report should alert physician to offer cytogenetic and/or molecular diagnostics in comparable cases. Actions (login required) View Item [eprints.ugd.edu.mk]

  • Multiple Congenital Anomalies

    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]

  • Arachnodactyly

    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]

  • Failure to Thrive

    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]

  • Hearing Impairment

    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]

  • Short Neck

    His head circumference is 48 cm and he has a short neck with low posterior hairline. Magnetic resonance imaging (MRI) showed lateral ventricles are enlarged to approximately 22mm ( Figure 3 ). [degruyter.com]

  • Language Delays

    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]

  • Small Scrotum

    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]

  • Renal Insufficiency

    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]

The 22q11.2 deletion: screening for deletion, diagnostic workup, and outcome of results: report on 181 patients. [nature.com]

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. [ncbi.nlm.nih.gov]

  • Small Kidney

    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]

Treatment of manifestations and prevention of secondary complications are needed. Recurrent seizures and infections are complications in ES. [scirp.org]

Treatment - Emanuel syndrome Care by a multidisciplinary team is usually necessary; standard management of gastroesophageal reflux, anal atresia (or stenosis), inguinal hernias, cardiac defects, cleft palate, hip dysplasia, other skeletal complications [checkorphan.org]

Treatment depends on the signs and symptoms present in the individual. People with Emanuel syndrome are typically by a team of several specialists. [malacards.org]

Other Patients and their families should be informed regarding natural history, treatment, mode of inheritance, genetic risks to other family members, and consumer-oriented resources. [ncbi.nlm.nih.gov]

Prognosis - Emanuel syndrome Not supplied. [checkorphan.org]

Please keep us updated on his prognosis, and whatever else you feel like sharing, and allow us to be here for you when you need someone. All my love to your family. c ctavs1979 @sldfjowiepeiwh Oh mama....I am SO sorry. [whattoexpect.com]

Treatment and prognosis The condition carries an extremely poor prognosis and is invariably fatal 3,4. Management is often supportive. Future pregnancies are however not thought to carry an increased risk of redeveloping the condition. [radiopaedia.org]

Early diagnosis and intervention for psychiatric illnesses improve long-term prognosis. [ncbi.nlm.nih.gov]

What no one would notice is that under my breath I would say, “I wish he had Down Syndrome”, because the prognosis of Emanuel Syndrome is 10 times worse and it’s a super rare condition. My husband and I are the only experts on Sebastian. [theresilientson.wordpress.com]

The etiology of only a fraction of such CHDs is known. We will rely upon our access to an extensive population of patients at the Children's Hospital of Philadelphia with CHDs, primarily defects of the outflow tract of the heart. [research.chop.edu]

The etiology is controversial; proposed mechanisms include: early amnion rupture early vascular disruption embryologic malformation with abnormal development of the body folds Internal organs are frequently affected with a high incidence of cardiac and [radiopaedia.org]

Techniques such as fluorescence in situ hybridization, PCR, Southern blot and pulsed-field gel electrophoresis are among the many techniques used in my laboratory to investigate the etiology of various chromosomal disorders. [med.upenn.edu]

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet. 2000; 9 :1665–70. [ PubMed : 10861293 ] Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. [ncbi.nlm.nih.gov]

Prevention - Emanuel syndrome attention to the airway during sedation and/or operative procedures in an institution with pediatric anesthesiologists. [checkorphan.org]

Sometimes geneticists can prevent Emanuel syndrome by testing potential parents who might be at risk and by counseling them regarding their risk levels and expectations. [wisegeek.net]

[…] help so many physicians and families by bringing them closer to a diagnosis- there are literally millions of individuals with unusual features around the world that lack a diagnosis and therefore lack information on natural history, recurrence risk and prevention [suite.face2gene.com]

Prevention of secondary complications: Attention to the airway during sedation and/or operative procedures in an institution with pediatric anesthesiologists. [ncbi.nlm.nih.gov]

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