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Genetics Home Reference: your guide to understanding genetic conditions
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Emanuel syndrome

Reviewed October 2008

What is Emanuel syndrome?

Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.

Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood.

How common is Emanuel syndrome?

Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported.

What are the genetic changes related to Emanuel syndrome?

Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22) chromosome.

As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to the characteristic signs and symptoms of this disorder. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.

Related Chromosome(s)

Changes involving these chromosomes are associated with Emanuel syndrome.

  • chromosome 11
  • chromosome 22

Can Emanuel syndrome be inherited?

Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der(22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of this disorder.

Where can I find information about diagnosis or management of Emanuel syndrome?

These resources address the diagnosis or management of Emanuel syndrome and may include treatment providers.

  • Gene Review: Emanuel Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=emanuel)
  • MedlinePlus Encyclopedia: Cleft Lip and Palate (http://www.nlm.nih.gov/medlineplus/ency/article/001051.htm)
  • MedlinePlus Encyclopedia: Microcephaly (http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm)
  • MedlinePlus Encyclopedia: Preauricular Tag or Pit (http://www.nlm.nih.gov/medlineplus/ency/article/003304.htm)

You might also find information on the diagnosis or management of Emanuel syndrome in Educational resources (http://ghr.nlm.nih.gov/condition/emanuel-syndrome/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/emanuel-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook.

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Emanuel syndrome?

You may find the following resources about Emanuel syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Cleft Lip and Palate (http://www.nlm.nih.gov/medlineplus/ency/article/001051.htm)
    • Encyclopedia: Microcephaly (http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm)
    • Encyclopedia: Preauricular Tag or Pit (http://www.nlm.nih.gov/medlineplus/ency/article/003304.htm)
    • Health Topic: Developmental Disabilities (http://www.nlm.nih.gov/medlineplus/developmentaldisabilities.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=9835)

  • Educational resources - Information pages

    • March of Dimes: Chromosomal Abnormalities (http://www.marchofdimes.com/baby/birthdefects_chromosomal.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96170)

  • Patient support - For patients and families

    • Chromosome 22 Central (http://www.c22c.org/)
    • Resource list from the University of Kansas Medical Center: Chromosomal conditions (http://www.kumc.edu/gec/support/chromoso.html)
    • Unique: Rare Chromosome Disorder Support Group (UK) (http://www.rarechromo.org/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=emanuel)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(emanuel%20syndrome%5BTIAB%5D)%20OR%20((der%5BTIAB%5D)%20AND%20(22%5BTIAB%5D)%20AND%20(11%5BTIAB%5D)%20AND%20(chromosome%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/609029)

What other names do people use for Emanuel syndrome?

  • Der(22) syndrome due to 3:1 meiotic disjunction events
  • Supernumary der(22) syndrome
  • Supernumary der(22)t(11;22) syndrome
  • Supernumary derivative 22 chromosome syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Emanuel syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Emanuel syndrome?

birth defect ; cell ; chromosome ; cleft palate ; failure to thrive ; gene ; hypotonia ; kidney ; microcephaly ; micrognathia ; muscle tone ; palate ; preauricular ; prevalence ; rearrangement ; Robertsonian translocation ; sign ; sinus ; symptom ; syndrome ; translocation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Fraccaro M, Lindsten J, Ford CE, Iselius L. The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet. 1980;56(1):21-51. (http://www.ncbi.nlm.nih.gov/pubmed/7203479?dopt=Abstract)
  • Gene Review: Emanuel Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=emanuel)
  • Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli AM, Bui TH, Caufin D, Dalprà L, Delendi N, et al. The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet. 1983;64(4):343-55. (http://www.ncbi.nlm.nih.gov/pubmed/6618487?dopt=Abstract)
  • McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J Hum Genet. 2002 May;70(5):1077-88. Epub 2002 Mar 29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11925570?dopt=Abstract)
  • Prieto JC, Garcia NM, Elder FF, Zinn AR, Baker LA. Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. J Pediatr Surg. 2007 Nov;42(11):1928-32. (http://www.ncbi.nlm.nih.gov/pubmed/18022449?dopt=Abstract)
  • Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet. 1999 Dec;65(6):1595-607. (http://www.ncbi.nlm.nih.gov/pubmed/10577913?dopt=Abstract)
  • Zackai EH, Emanuel BS. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet. 1980;7(4):507-21. (http://www.ncbi.nlm.nih.gov/pubmed/7211960?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2008
Published: February 18, 2013