Cooper-Jabs syndrome
historical
Synonyms: Aural atresia-multiple congenital anomalies-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cooper-Jabs syndrome | Aural atresia-multiple congenital anomalies-intellectual disability syndrome |
| fr | Syndrome de Cooper-Jabs | Syndrome d'atrésie auriculaire-malformations congénitales multiples-déficience intellectuelle |
| de | Cooper-Jabs-Syndrom | Auralatresie-multiple kongenitale Fehlbildungen-Intelligenzminderung-Syndrom |
| es | Síndrome de Cooper-Jabs | Síndrome de atresia aural-anomalías congénitas múltiples-discapacidad intelectual |
| it | Sindrome di Cooper-Jabs | Sindrome atresia auricolare-anomalie congenite multiple-disabitlià intellettiva |
| nl | Syndroom van Cooper-Jabs | Gehoorgangatresie - meervoudige congenitale anomalieën - intellectuele achterstand-syndroom |
| pt | Síndrome Cooper-Jabs | Atrésia aural-anomalias congénitas múltiplas-perturbação do desenvolvimento intelectual |
| pl | Zespół Coopera i Jabsa | Atrezja ucha - mnogie wady wrodzone - opóźnienie w rozwoju |
| cs | Cooperův-Jabsův syndrom | Syndrom zahrnující aurální atrézii, mnohočetné vrozené anomálie a mentální retardaci · Cooper-Jabsův syndrom |
| uk | Синдром Купера-Джебса | Синдром атрезії слухового нерва - множинних вроджених аномалій - інтелектуальної недостатності |
| zh | Cooper-Jabs综合征 | 耳道闭锁-多发性先天性异常-智力障碍综合征 |
| tr | Cooper-Jabs sendromu | Kulak atrezisi-çoklu doğumsal anomaliler-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209770 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008850 | E | validated | |
| UMLS | C4303864 | 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):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3572627[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3572627[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000370 | Abnormality of the middle ear | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0000463 | Anteverted nares | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000248 | Brachycephaly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002007 | Frontal bossing | |
| HP:0001249 | Intellectual disability | |
| HP:0000272 | Malar flattening | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000921 | Missing ribs | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0001537 | Umbilical hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1488
- This record as JSON: /data/d/1488.json