Conductive deafness-ptosis-skeletal anomalies syndrome
historical
Synonyms: Conductive hearing loss-ptosis-skeletal anomalies syndrome · Jackson-Barr syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- No data available
- Status
- historical
Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Conductive deafness-ptosis-skeletal anomalies syndrome | Conductive hearing loss-ptosis-skeletal anomalies syndrome · Jackson-Barr syndrome |
| fr | Syndrome de surdité-ptosis-anomalies squelettiques | Syndrome de Jackson-Barr |
| de | Schallleitungsschwerhörigkeit-Ptosis-Skelettanomalien-Syndrom | Jackson-Barr-Syndrom |
| es | Síndrome de sordera conductiva-ptosis-anomalías esqueléticas | Síndrome de Jackson-Barr · Síndrome de hipoacusia conductiva-ptosis-anomalías esqueléticas |
| it | Sordità - ptosi - anomalie scheletriche | Sindrome di Jackson-Barr |
| nl | Conductieve doofheid - ptosis - skeletanomalieën-syndroom | Conductief gehoorverlies - ptosis - skeletanomalieën-syndroom · Syndroom van Jackson-Barr |
| pt | Síndrome de surdez de transmissão-ptose-anomalias esqueléticas | Síndrome Jackson-Barr · Síndrome de perda auditiva de transmissão-ptose-anomalias esqueléticas |
| pl | Głuchota przewodzeniowa - ptoza - anomalie szkieletowe | Zespół Jacksona i Barra |
| cs | Syndrom zahrnující převodní hluchotu, ptózu a anomálie skeletu | Jacksonův-Barrův syndrom · Jackson-Barrův syndrom |
| uk | Синдром кондуктивної глухоти-птозу-скелетних аномалій | Синдром кондуктивної приглухуватості - птоз - скелетні аномалії · Синдром Джексона-Барра |
| zh | 传导性耳聋-睑下垂-骨骼畸形综合征 | 传导性听力丧失-上睑下垂-骨骼异常综合征 |
| tr | Kondüktif sağırlık-pitozis-iskelet anomalileri sendromu | Jackson-Barr sendromu · İletim tipi işitme kaybı-pitozis-iskelet anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221320 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009084 | E | validated | |
| MeSH | C535993 | E | validated | |
| UMLS | C1857340 | E | validated | |
| GARD | 305 | 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 (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin 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 | 3 cases | Worldwide | Case(s) | Validated | 728561[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_728561[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0008773 | Aplasia/Hypoplasia of the middle ear | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000581 | Blepharophimosis | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0003042 | Elbow dislocation | |
| HP:0000286 | Epicanthus | |
| HP:0002213 | Fine hair | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000545 | Myopia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3236
- This record as JSON: /data/d/3236.json