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Disease Profile

Emanuel syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q92.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Supernumerary der(22),t(11;22) syndrome; Supernumerary der(22) syndrome

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases;

Summary

Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development.[1] The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head (microcephaly), distinctive facial features, small jaw, ear anomalies, arched palate (roof of the mouth), cleft palate, heart defects, kidney malformations, and genital abnormalities (in males). Emanuel syndrome is caused by the presence of additional genetic material of the chromosomes 11 and 22 in each cell. This condition is usually inherited from a parent who has a balanced translocation between chromosomes 11 and 22.[1][2] Treatment depends on the signs and symptoms present in the individual. People with Emanuel syndrome are typically by a team of several specialists.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Global developmental delay
0001263
30%-79% of people have these symptoms
Aortic valve stenosis
Narrowing of aortic valve
0001650
Broad jaw
Broad lower face
Wide jaw

[ more ]

0012802
Cerebral atrophy
Degeneration of cerebrum
0002059
Congenital hip dislocation
Dislocated hip since birth
0001374
Constipation
0002019
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language 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 of teeth

[ more ]

0000678
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Ectopic anus
Abnormal anus position
0004397
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hooded eyelid
0030820
Hypogonadism
Decreased activity of gonads
0000135
Infertility
0000789
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Kyphoscoliosis
0002751
Long philtrum
0000343
Low hanging columella
0009765
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Low-set nipples
0002562
Macrotia
Large ears
0000400
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micropenis
Short penis
Small penis

[ more ]

0000054
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Preauricular pit
Pit in front of the ear
0004467
Preauricular skin tag
0000384
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Seizure
0001250
Single umbilical artery
Only one artery in umbilical cord instead of two
0001195
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Supernumerary ribs
Extra ribs
0005815
Truncus arteriosus
0001660
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
5%-29% of people have these symptoms
Abnormality of the ankles
0003028
Agenesis of corpus callosum
0001274
Anal atresia
Absent anus
0002023
Arnold-Chiari malformation
0002308
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Bifid uvula
0000193
Breech presentation
Feet or buttocks of fetus positioned near opening of uterus
0001623
Congenital diaphragmatic hernia
0000776
Cough
Coughing
0012735
Dandy-Walker malformation
0001305
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypermetropia
Farsigh

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Emanuel syndrome. Click on the link to view a sample search on this topic.

        References

        1. Emanuel syndrome. Genetics Home Reference. January, 2017; https://ghr.nlm.nih.gov/condition/emanuel-syndrome.
        2. Emanuel BS, Zackai EH & Medne L. Emanuel Syndrome. GeneReviews. August 31, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1263/.

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