ORPHA:96170

Emanuel syndrome

Synonyms: Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome

Type: Malformation syndrome
Group: Disorder
Age of onset: Antenatal, Neonatal
Status: active

A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Emanuel syndrome	Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome
fr	Syndrome d'Emanuel	Chromosome supernuméraire der(22)
de	Emanuel-Syndrom	Supernumerary der(22)-Syndrom · der(22)t(11;22)-Syndrom
es	Síndrome de Emanuel	Síndrome del der(22) supernumerario · Síndrome der(22) supernumerario · Síndrome der(22)t(11;22)
it	Sindrome di Emanuel	Sindrome del cromosoma der (22) t (11;22) · Sindrome del cromosoma der(22) sovrannumerario · Sindrome di der(22)t(11;22)
nl	Syndroom van Emanuel	Surnumerair der(22) syndroom · der(22)t(11;22) syndroom
pt	Síndrome Emanuel	Síndrome der(22) supranumerário · Síndrome der(22)t(11;22)
pl	Zespół Emanuela	Zespół nadliczbowego der(22) · Zespół Der(22)t(11;22)
cs	Syndrom Emanuelové	Der(22)t(11;22) syndrom · Syndrom nadpočetného der(22)
uk	Синдром Емануеля	Синдром Der(22)t(11;22) · Синдром надлишкового der(22)
zh	Emanuel综合征	额外22号染色体综合征
tr	Emanuel sendromu	Der (22) t (11; 22) sendromu · Süpernümerari der (22) sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609029	E		validated
ICD-10	Q92.6	NTBT	attributed	validated
ICD-11	LD41.Q	NTBT	index	validated
MONDO	0012176	E		validated
MeSH	C535733	E		validated
UMLS	C1836929	E		validated
GARD	9835	E		validated
MedDRA	10079203	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (3):

ORPHA:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		350 cases	Worldwide	Case(s)	Validated	26076791[PMID]_20301440[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET_26076791[PMID]_20301440[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

80 annotations · validated 2017-04-12

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001263	Global developmental delay
Frequent (79-30%)
HP:0001650	Aortic valve stenosis
HP:0012802	Broad jaw
HP:0002059	Cerebral atrophy
HP:0001374	Congenital hip dislocation
HP:0002019	Constipation
HP:0000028	Cryptorchidism
HP:0000490	Deeply set eye
HP:0000684	Delayed eruption of teeth
HP:0000750	Delayed speech and language development
HP:0000678	Dental crowding
HP:0002015	Dysphagia
HP:0004397	Ectopic anus
HP:0001508	Failure to thrive
HP:0011968	Feeding difficulties
HP:0002020	Gastroesophageal reflux
HP:0001290	Generalized hypotonia
HP:0001510	Growth delay
HP:0000365	Hearing impairment
HP:0000218	High palate
HP:0030820	Hooded eyelid
HP:0000135	Hypogonadism
HP:0000789	Infertility
HP:0001249	Intellectual disability
HP:0002751	Kyphoscoliosis
HP:0000343	Long philtrum
HP:0009765	Low hanging columella
HP:0000369	Low-set ears
HP:0002562	Low-set nipples
HP:0000400	Macrotia
HP:0000347	Micrognathia
HP:0000054	Micropenis
HP:0000545	Myopia
HP:0004467	Preauricular pit
HP:0000384	Preauricular skin tag
HP:0001642	Pulmonic stenosis
HP:0002719	Recurrent infections
HP:0000403	Recurrent otitis media
HP:0002205	Recurrent respiratory infections
HP:0002650	Scoliosis
HP:0001250	Seizure
HP:0001195	Single umbilical artery
HP:0000486	Strabismus
HP:0005815	Supernumerary ribs
HP:0000692	Tooth malposition
HP:0001660	Truncus arteriosus
HP:0000582	Upslanted palpebral fissure
Occasional (29-5%)
HP:0002500	Abnormal cerebral white matter morphology
HP:0003028	Abnormality of the ankles
HP:0001274	Agenesis of corpus callosum
HP:0002023	Anal atresia
HP:0000483	Astigmatism
HP:0001631	Atrial septal defect
HP:0000193	Bifid uvula
HP:0001623	Breech presentation
HP:0002308	Chiari malformation
HP:0000175	Cleft palate
HP:0000776	Congenital diaphragmatic hernia
HP:0012735	Cough
HP:0001305	Dandy-Walker malformation
HP:0001558	Decreased fetal movement
HP:0000238	Hydrocephalus
HP:0000540	Hypermetropia
HP:0000023	Inguinal hernia
HP:0001511	Intrauterine growth retardation
HP:0000252	Microcephaly
HP:0002828	Multiple joint contractures
HP:0001562	Oligohydramnios
HP:0001643	Patent ductus arteriosus
HP:0001622	Premature birth
HP:0000508	Ptosis
HP:0005401	Recurrent candida infections
HP:0005989	Redundant neck skin
HP:0000089	Renal hypoplasia
HP:0000960	Sacral dimple
HP:0012714	Severe hearing impairment
HP:0009101	Submucous cleft lip
HP:0000122	Unilateral renal agenesis
HP:0001629	Ventricular septal defect
HP:0002119	Ventriculomegaly

Run the differential on the 1 obligate / very frequent terms

Annotation source: 19606488[PMID]_3720005[PMID]_10577913[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/96170
This record as JSON: /data/d/96170.json