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Emanuel Syndrome

Der(22)t(11;22) Syndrome


Presentation

  • 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]
  • The present study contributed to the phenotypic delineation of ES and confirmed the first ES patient in mainland China.[ncbi.nlm.nih.gov]
  • Overall the present report should alert physician to offer cytogenetic and/or molecular diagnostics in comparable cases.[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]
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]
  • Arachnodactyly and tapering fingers are characteristic. Clubfoot and joint contractures can be congenital or develop later in life.[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]
Turkish
  • Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl. J Pediatr Neurosci 2013;8:259-60. [ PUBMED ] 2. Garcia-Vielma C, de la Rosa-Alvarado RM, Nieto-Martinez K, Cortes-Gutierrez EI, de la Fuente-Cortez B.[pediatricneurosciences.com]
Ear Deformity
  • Some have ear deformities, abnormally small heads, cleft palates or extra skin on the back of the neck. Mental retardation and developmental delays appear as the baby matures into childhood.[wisegeek.net]

Workup

  • 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]

Treatment

  • 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]
  • Treatment: Children with Emanuel syndrome have weak muscle tone. This combined with a cleft palate makes feeding the child a very difficult proposition.[skinsheen.com]

Prognosis

  • 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]
  • Couples should also receive information about the 22q11.2 deletion syndrome and be informed of the variability and prognosis. Prior to testing for the deletion, couples should be counseled about the benefits and limitations of testing.[nature.com]

Etiology

  • 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]
  • 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]
  • 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]
  • 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]

Prevention

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