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Year : 2015  |  Volume : 10  |  Issue : 2  |  Page : 194-195

Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome

Private Practice, 74 Crossing Place, Mechanicsville, VA, USA

Date of Web Publication22-Jun-2015

Correspondence Address:
Shailendra Kapoor
Private Practice, 74 Crossing Place, Mechanicsville, VA
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.159183

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How to cite this article:
Kapoor S. Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. J Pediatr Neurosci 2015;10:194-5

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Kapoor S. Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. J Pediatr Neurosci [serial online] 2015 [cited 2023 Sep 28];10:194-5. Available from: https://www.pediatricneurosciences.com/text.asp?2015/10/2/194/159183

Dear Sir,

I read with great interest the recent article by Topcu et al. [1] Interestingly, Kabuki syndrome is often confused with another rare syndrome-"Emanuel syndrome" (ES).

Overall, ES is a rare clinical entity characterized by microcephaly and psychomotor delay in males. ES occurs secondary to a supernumerary derivative chromosome 22 resulting in chromosomal imbalance. [2] Characteristically, there is 3:1 abnormal segregation of a parental balanced translocation between chromosomes 11 and 22 resulting in a spectrum of different abnormalities. Interestingly, patients with ES may also develop concurrent immunological abnormalities. For instance, Tovo et al. have recently reported decreased immunoglobulin levels in affected individuals. [3] In nearly 90% of affected patients, the mother is the carrier of the translocation.

Ear pits are the most common congenital abnormality seen in affected patients and may be seen in almost 76% of all patients. Angular mouth pits may also be seen. Glaser et al. have also reported the bilateral absence of the ear canals in some patients with ES. [4] In fact, nearly 15% of patients with ES develop severe hearing loss. Strabismus (33%), myopia (38%), and/or ptosis (8%) are other commonly seen ophthalmological abnormalities. Rare conjunctival lesions such as lipodermoid as well as other ocular abnormalities such as Duane's anomaly have also been reported. [5] 53% of the patients also exhibit a cleft palate while 60% also exhibit micrognathia. In addition, patients may have a bifid uvula. Patients have a characteristic facial dysmorphism comprised of a prominent long philtrum, a flat nasal bridge, large low-set ears, and down-slanting palpebrae with epicanthal folds. Facial asymmetry is common. [6] Psychomotor delay is seen in all patients afflicted with ES. For instance, affected children first exhibit a smile at a mean age of 7 months. Similarly, most affected patients with ES first start crawling around a mean age of thirty four months. In addition, anxiety has been noted in 16% of affected individuals.

Gremeau et al. have also reported congenital diaphragmatic hernia in ES. [7] Similarly, inguinal hernias are seen in 14% of patients. Cardiac anomalies are also seen in almost 62% of all affected patients. Commonly encountered defects include tetralogy of Fallot, persistent left superior vena cava, and "patent ductus arteriosus." Defects such as ASD (45%) and VSD (13%) are also common. Patients may also develop intra-abdominal anatomical anomalies. For instance, Fenerci et al. have recently reported pancreatic hypoplasia as well as agenesis of the left hepatic lobe in ES. [8] Nearly 54% of affected children also develop gastro-esophageal reflux. Hirschsprung disease and biliary atresia have also been reported in some patients with ES. In addition, 19% of affected patients develop renal abnormalities. In addition, cryptorchidism is seen in 46% of patients while recurrent urinary tract infections are seen in 18% of affected individuals.

Neurological abnormalities are also frequently seen in patients with ES. For instance, nearly 48% of affected patients develop seizures. [9] On the other hand, hypotonia is seen in 65% of cases. Medne et al. in a recent study have reported that microcephaly is a universal finding in ES and is seen in 100% of all affected males. [10] In addition, hydrocephalus may develop in 11% of affected patients. In addition, Dandy Walker malformation develops in 8% of patients while hypoplasia of the corpus callosum is seen in 19% of cases.

A number of skeletal abnormalities may also develop in ES. For instance, nearly 47% of patients develop dislocation of the hip joints while joint contractures develop in 15% of patients with ES. 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. In addition, affected patients may have extra finger creases.

Failure to thrive is seen in as many as 63% of affected children. [12] Patients are especially prone to recurrent infections especially recurrent otitis media. Similarly, recurrent pneumonia develops in nearly 47% of affected patients. [13] Nearly 1/5 th of affected patients end up requiring a G tube. [14]

As is obvious from the above discussion, ES may mimic Kabuki syndrome. Identification of the above features may help in early diagnosis of ES.

   References Top

Topcu Y, Bayram E, Karaoglu P, Yis U, Kurul SH. Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl. J Pediatr Neurosci 2013;8:259-60.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
Garcia-Vielma C, de la Rosa-Alvarado RM, Nieto-Martinez K, Cortes-Gutierrez EI, de la Fuente-Cortez B. Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report. J Assoc Genet Technol 2010;36:189-93.  Back to cited text no. 2
Tovo PA, Davi G, Fraceschini P, Delpiano A. Thymic hormone dependent immunodeficiency in an infant with partial trisomy of chromosome 22. Thymus 1986;8:313-318.  Back to cited text no. 3
Glaser TS, Rauen KA, Jeng LJ, de Alba Campomanes AG. Lipodermoid in a patient with Emanuel syndrome. J AAPOS 2013;17:211-3.  Back to cited text no. 4
Tapia-Páez I, O'Brien KP, Kost-Alimova M. Fine mapping of the constitutional translocation t (11; 22)(q23; q11). Hum Genet 2000;106:506-16.  Back to cited text no. 5
Walfisch A, Mills KE, Chodirker BN, Berger H. Prenatal screening characteristics in Emanuel syndrome: A case series and review of the literature. Arch Gynecol Obstet 2012;286:299-30.  Back to cited text no. 6
Gremeau AS, Coste K, Blanc P, Goumy C, Francannet C, Dechelotte PJ, et al. Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. Prenat Diagn 2009;29:816-8.  Back to cited text no. 7
Fenerci YE, Guven GS, Kuru D. Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. Genet Couns 2007;18:401-8.  Back to cited text no. 8
Nakai H, Yamamoto Y, Kuroki Y. Partial trisomy of 11 and 22 due to familial translocation t (11; 22)(q23; q11), inherited in three generations. Hum Genet 1979;51:349-55.  Back to cited text no. 9
Medne L, Zackai EH, Emanuel BS. Emanuel syndrome. GeneReviews at GeneTests: Medical genetics information resource (database online) Apr 2007.   Back to cited text no. 10
Zaki MS, Mohamed AM, Kamel AK, El-Gerzawy AM, El-Ruby MO. Emanuel syndrome due to unusual segregation of paternal origin. Genet Couns 2012;23:319-28.  Back to cited text no. 11
Iselius L, Lindsten J, Aurias A. The 11q; 22q translocation: A collaborative study of 20 new cases and analysis of 110 families. Hum Genet 1983;64:343-55.  Back to cited text no. 12
Emanuel BS, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS. Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J Med Genet 1976;13:501-6.  Back to cited text no. 13
Budarf M, Sellinger B, Griffin C, Emanuel BS. Comparative mapping of the constitutional and tumor-associated 11;22 translocations. Am J Hum Genet 1989;45:128-39.  Back to cited text no. 14


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