Rare Endocrinology News
Disease Profile
Emanuel syndrome
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
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 |
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 |
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 |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hooded eyelid | 0030820 | |
Decreased activity of gonads
|
0000135 | |
Infertility | 0000789 | |
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 |
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 |
0001250 | ||
Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
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 |
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 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypermetropia |
Farsigh
OrganizationsSupport 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 moreThese 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
References
Rare Endocrinology News |