MCID: EMN001
MIFTS: 33

Emanuel Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Emanuel Syndrome

MalaCards integrated aliases for Emanuel Syndrome:

Name: Emanuel Syndrome 57 25 20 43 58 36 13 70
Supernumerary Der(22)t(11;22) Syndrome 57 25 43
Supernumerary Der(22) Syndrome 20 43 58
Der(22) Syndrome Due to 3:1 Meiotic Disjunction Events 43
Supernumerary Derivative 22 Chromosome Syndrome 43
Supernumerary Der(22),t(11;22) Syndrome 20
Der(22)t(11;22) Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
inherited chromosomal imbalance

Miscellaneous:
risk of affected offspring in maternal translocation carrier - 4-10%
risk of affected offspring in paternal translocation carrier - 0-7%


GeneReviews:

25
Penetrance Penetrance is complete in individuals with the supernumerary der(22).

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Emanuel Syndrome

MedlinePlus Genetics : 43 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.

MalaCards based summary : Emanuel Syndrome, also known as supernumerary der(22)t(11;22) syndrome, is related to microcephaly and ventricular septal defect, and has symptoms including seizures and constipation. An important gene associated with Emanuel Syndrome is DER22T11-22 (Emanuel Syndrome). Affiliated tissues include eye, heart and kidney, and related phenotypes are global developmental delay and intellectual disability

GARD : 20 Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development. 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. Treatment depends on the signs and symptoms present in the individual. People with Emanuel syndrome are typically by a team of several specialists.

OMIM® : 57 Emanuel syndrome is characterized by multiple congenital anomalies, craniofacial dysmorphism, and significant developmental delay and mental retardation. Features include ear anomalies, preauricular tag or sinus, cleft or high-arched palate, micrognathia, microcephaly, kidney abnormalities, heart defects, and genital abnormalities in males (summary by Carter et al., 2009). Carriers of the balanced constitutional t(11;22) translocation are phenotypically normal but have a 10% risk of having progeny with supernumerary der(22)t(11;22) syndrome as a result of malsegregation of the der(22). The affected progeny are genotypically unbalanced because they carry the der(22) as a supernumerary chromosome--either 47,XX,+der(22)t(11;22) or 47,XY,+der(22)t(11;22) (Zackai and Emanuel, 1980; Lin et al., 1986). (609029) (Updated 20-May-2021)

KEGG : 36 Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Patients have a supernumerary derivative chromosome caused by a parental balanced translocation between chromosomes 11 and 22.

Wikipedia : 73 Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder... more...

GeneReviews: NBK1263

Related Diseases for Emanuel Syndrome

Graphical network of the top 20 diseases related to Emanuel Syndrome:



Diseases related to Emanuel Syndrome

Symptoms & Phenotypes for Emanuel Syndrome

Human phenotypes related to Emanuel Syndrome:

58 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
8 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
9 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
10 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
11 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
12 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
13 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
14 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
15 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
16 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
17 congenital hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001374
18 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
19 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
20 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
21 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
22 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
23 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
24 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
25 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
26 truncus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001660
27 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
28 infertility 58 31 frequent (33%) Frequent (79-30%) HP:0000789
29 supernumerary ribs 58 31 frequent (33%) Frequent (79-30%) HP:0005815
30 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
31 ectopic anus 58 31 frequent (33%) Frequent (79-30%) HP:0004397
32 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
33 single umbilical artery 58 31 frequent (33%) Frequent (79-30%) HP:0001195
34 broad jaw 58 31 frequent (33%) Frequent (79-30%) HP:0012802
35 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
36 aortic valve stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001650
37 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
38 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
39 low-set nipples 58 31 frequent (33%) Frequent (79-30%) HP:0002562
40 low hanging columella 58 31 frequent (33%) Frequent (79-30%) HP:0009765
41 hooded eyelid 58 31 frequent (33%) Frequent (79-30%) HP:0030820
42 seizure 31 frequent (33%) HP:0001250
43 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
44 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
45 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
46 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
47 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
48 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
49 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
50 multiple joint contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002828

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
cerebral atrophy
hypotonia
mental retardation
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties
imperforate anus
tight anal sphincter
more
Respiratory:
recurrent respiratory infections

Head And Neck Eyes:
strabismus
myopia
deep-set eyes
upslanting palpebral fissures
hooded eyelids

Head And Neck Face:
micrognathia
long philtrum
asymmetric facies
broad mandible

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pulmonic stenosis
aortic stenosis

Cardiovascular Vascular:
patent ductus arteriosus
truncus arteriosus

Head And Neck Teeth:
delayed eruption of primary teeth
crowded teeth
misaligned teeth

Head And Neck Nose:
low hanging columella

Genitourinary Kidneys:
absent kidney
hypoplastic kidney

Chest Diaphragm:
diaphragmatic hernia

Genitourinary Internal Genitalia Male:
undescended testis

Skeletal Spine:
scoliosis
kyphosis

Genitourinary External Genitalia Male:
inguinal hernia
micropenis

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate

Head And Neck Ears:
low-set ears
recurrent otitis media
hearing loss
large ears
preauricular tag
more
Skeletal Pelvis:
congenital hip dislocation

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Chest Breasts:
low-set nipples

Growth Other:
prenatal growth retardation

Head And Neck Neck:
excess nuchal skin

Chest Ribs Sternum Clavicles And Scapulae:
13 pairs of ribs

Laboratory Abnormalities:
patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11)
carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

Clinical features from OMIM®:

609029 (Updated 20-May-2021)

UMLS symptoms related to Emanuel Syndrome:


seizures; constipation

Drugs & Therapeutics for Emanuel Syndrome

Search Clinical Trials , NIH Clinical Center for Emanuel Syndrome

Genetic Tests for Emanuel Syndrome

Anatomical Context for Emanuel Syndrome

MalaCards organs/tissues related to Emanuel Syndrome:

40
Eye, Heart, Kidney, Testis, Breast

Publications for Emanuel Syndrome

Articles related to Emanuel Syndrome:

(show all 50)
# Title Authors PMID Year
1
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. 25 57 61
10577913 1999
2
Long AT-rich palindromes and the constitutional t(11;22) breakpoint. 57 25
11726547 2001
3
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). 57 25
10861293 2000
4
Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. 57 25
7211960 1980
5
The 11q;22q translocation: a European collaborative analysis of 43 cases. 57 25
7203479 1980
6
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. 57 61
19606488 2009
7
Congenital heart disease in supernumerary der(22),t(11;22) syndrome. 61 57
3720005 1986
8
Genetic variation affects de novo translocation frequency. 57
16484486 2006
9
Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. 57
11586296 2001
10
Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. 57
11063731 2000
11
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). 57
10903930 2000
12
Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. 25
20034094 2010
13
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). 25
16845657 2006
14
A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. 25
16049998 2005
15
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2020
16
Non-invasive prenatal screening for Emanuel syndrome. 61
32158503 2020
17
Neuroimaging findings in Emanuel Syndrome. 61
32184920 2019
18
Oral and dental findings in emanuel syndrome. 61
30980693 2019
19
Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients. 61
30550448 2019
20
Ocular manifestations of Emanuel syndrome. 61
30178914 2018
21
Phenotypic characterization of derivative 22 syndrome: case series and review. 61
29666339 2018
22
Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. 61
30271639 2018
23
[Genetic diagnosis and follow up of a fetus with Emanuel syndrome]. 61
28981939 2017
24
A clinical and molecular analysis of a patient with Emanuel syndrome. 61
28075445 2017
25
Anesthetic Management of a Patient With Emanuel Syndrome. 61
27973931 2016
26
A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother. 61
27785401 2015
27
A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement. 61
27617132 2015
28
Anesthetic management of pediatric patients with Emanuel syndrome. 61
25603733 2015
29
Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. 61
26167235 2015
30
Emanuel Syndrome (ES): new case-report and review of the literature. 61
26076791 2015
31
Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. 61
24980921 2014
32
Lipodermoid in a patient with Emanuel syndrome. 61
23528375 2013
33
Complex small supernumerary marker chromosomes - an update. 61
24171835 2013
34
Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes. 61
24564826 2013
35
Derivative 11;22 (emanuel) syndrome: a case report and a review. 61
23691404 2013
36
Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer. 61
23117075 2012
37
Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature. 61
22434056 2012
38
Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes. 61
21949351 2012
39
Emanuel syndrome due to unusual segregation of paternal origin. 61
22876593 2012
40
Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report. 61
21149990 2010
41
Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. 61
19353589 2009
42
Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. 61
19434659 2009
43
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? 61
18471318 2008
44
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. 61
18636632 2008
45
Emanuel Syndrome 61
20301440 2007
46
Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. 61
18286821 2007
47
Prenatal diagnosis of the supernumerary der(22)t(11;22) syndrome associated with abnormal sonographic findings. 61
17375536 2006
48
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. 61
11339380 2001
49
Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. 61
8994250 1996
50
Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome. 61
9007334 1996

Variations for Emanuel Syndrome

Copy number variations for Emanuel Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 49675 11 110000000 120700000 Copy number Emanuel syndrome
2 49676 11 110000000 120700000 Deletion Emanuel syndrome
3 160205 22 11800000 24300000 Copy number Emanuel syndrome
4 160220 22 11800000 24300000 Deletion Emanuel syndrome

Expression for Emanuel Syndrome

Search GEO for disease gene expression data for Emanuel Syndrome.

Pathways for Emanuel Syndrome

GO Terms for Emanuel Syndrome

Sources for Emanuel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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