MCID: EMN001
MIFTS: 37

Emanuel Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Emanuel Syndrome

MalaCards integrated aliases for Emanuel Syndrome:

Name: Emanuel Syndrome 53 23 49 24 55 36 69
Supernumerary Der(22) Syndrome 49 24 55
Supernumerary Der(22)t(11;22) Syndrome 53 24
Der(22) Syndrome Due to 3:1 Meiotic Disjunction Events 24
Supernumerary Derivative 22 Chromosome Syndrome 24
Supernumerary Der(22),t(11;22) Syndrome 49
Supernumerary Der(22)t(11 53
Der(22)t(11;22) Syndrome 55
22) Syndrome 53

Characteristics:

OMIM:

53
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:

23
Penetrance Penetrance is complete in individuals with the supernumerary der(22)...

Classifications:



Summaries for Emanuel Syndrome

NIH Rare Diseases : 49 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. Last updated: 6/28/2016

MalaCards based summary : Emanuel Syndrome, also known as supernumerary der(22) syndrome, is related to diaphragmatic hernia, congenital and kabuki syndrome 1, and has symptoms including constipation, seizures and low-set ears. An important gene associated with Emanuel Syndrome is DER22T11-22 (Emanuel Syndrome). Affiliated tissues include heart, kidney and skin.

Genetics Home Reference : 24 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.

OMIM : 53 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)

Wikipedia : 72 Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies,... more...

GeneReviews: NBK1263

Related Diseases for Emanuel Syndrome

Diseases related to Emanuel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 9.8
2 kabuki syndrome 1 9.8
3 supernumerary der(22)t(8 9.8
4 acute monoblastic leukemia 9.3 LOC108449888 LOC108449897

Symptoms & Phenotypes for Emanuel Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
gastroesophageal reflux
feeding difficulties
imperforate anus
tight anal sphincter
more
Head And Neck Ears:
low-set ears
recurrent otitis media
hearing loss
large ears
preauricular tag
more
Genitourinary External Genitalia Male:
inguinal hernia
micropenis

Head And Neck Head:
microcephaly

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

Cardiovascular Vascular:
patent ductus arteriosus
truncus arteriosus

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Skeletal Pelvis:
congenital hip dislocation

Head And Neck Nose:
low hanging columella

Genitourinary Kidneys:
absent kidney
hypoplastic kidney

Chest Diaphragm:
diaphragmatic hernia

Genitourinary Internal Genitalia Male:
undescended testis

Neurologic Central Nervous System:
seizures
global developmental delay
cerebral atrophy
hypotonia
mental retardation
more
Skeletal Spine:
scoliosis
kyphosis

Respiratory:
recurrent respiratory infections

Head And Neck Mouth:
cleft palate
high-arched palate

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

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

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

Chest Breasts:
low-set nipples

Growth Other:
prenatal growth retardation

Head And Neck Neck:
excess nuchal skin

Chest RibsSternum 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

Human phenotypes related to Emanuel Syndrome:

55 31 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
3 low-set ears 55 31 frequent (33%) Frequent (79-30%) HP:0000369
4 agenesis of corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001274
5 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
6 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
7 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
8 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
9 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
10 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
11 scoliosis 55 31 Frequent (79-30%) HP:0002650
12 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
13 hearing impairment 55 31 Frequent (79-30%) HP:0000365
14 macrotia 55 31 frequent (33%) Frequent (79-30%) HP:0000400
15 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
16 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
17 delayed speech and language development 55 31 frequent (33%) Frequent (79-30%) HP:0000750
18 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
19 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
20 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
21 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
22 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
23 feeding difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0011968
24 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
25 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
26 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
27 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
28 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
29 recurrent otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000403
30 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
31 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
32 hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000135
33 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
34 arnold-chiari malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002308
35 dental crowding 55 31 frequent (33%) Frequent (79-30%) HP:0000678
36 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
37 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
38 renal hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000089
39 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
40 truncus arteriosus 55 31 frequent (33%) Frequent (79-30%) HP:0001660
41 cough 55 31 occasional (7.5%) Occasional (29-5%) HP:0012735
42 sacral dimple 55 31 occasional (7.5%) Occasional (29-5%) HP:0000960
43 pulmonic stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0001642
44 abnormality of the ankles 55 31 occasional (7.5%) Occasional (29-5%) HP:0003028
45 oligohydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001562
46 decreased fetal movement 55 31 occasional (7.5%) Occasional (29-5%) HP:0001558
47 preauricular skin tag 55 31 frequent (33%) Frequent (79-30%) HP:0000384
48 infertility 55 31 frequent (33%) Frequent (79-30%) HP:0000789
49 supernumerary ribs 55 31 frequent (33%) Frequent (79-30%) HP:0005815
50 preauricular pit 55 31 frequent (33%) Frequent (79-30%) HP:0004467

UMLS symptoms related to Emanuel Syndrome:


seizures, constipation

Drugs & Therapeutics for Emanuel Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Emanuel Syndrome

Genetic Tests for Emanuel Syndrome

Anatomical Context for Emanuel Syndrome

MalaCards organs/tissues related to Emanuel Syndrome:

38
Heart, Kidney, Skin, Eye, Testis

Publications for Emanuel Syndrome

Articles related to Emanuel Syndrome:

(show all 16)
# Title Authors Year
1
A clinical and molecular analysis of a patient with Emanuel syndrome. ( 28075445 )
2017
2
Anesthetic Management of a Patient With Emanuel Syndrome. ( 27973931 )
2016
3
Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. ( 26167235 )
2015
4
A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother. ( 27785401 )
2015
5
Anesthetic management of pediatric patients with Emanuel syndrome. ( 25603733 )
2015
6
Emanuel Syndrome (ES): new case-report and review of the literature. ( 26076791 )
2015
7
Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. ( 24980921 )
2014
8
Derivative 11;22 (emanuel) syndrome: a case report and a review. ( 23691404 )
2013
9
Lipodermoid in a patient with Emanuel syndrome. ( 23528375 )
2013
10
Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature. ( 22434056 )
2012
11
Emanuel syndrome due to unusual segregation of paternal origin. ( 22876593 )
2012
12
Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report. ( 21149990 )
2010
13
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. ( 19606488 )
2009
14
Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. ( 19434659 )
2009
15
Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. ( 18286821 )
2007
16
Emanuel Syndrome ( 20301440 )
1993

Variations for Emanuel Syndrome

Copy number variations for Emanuel Syndrome from CNVD:

7
# CNVD ID Chromosom 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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