Lowe-Kohn-Cohen syndrome
historical
Synonyms: Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lowe-Kohn-Cohen syndrome | Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome |
| fr | Syndrome de Lowe-Kohn-Cohen | Syndrome de surdité-néphrite-malformation anorectale |
| de | Lowe-Kohn-Cohen-Syndrom | Taubheit - Nephritis - ano-rektale Fehlbildung |
| es | Síndrome de Lowe Kohn Cohen | Síndrome de hipoacusia-nefritis-malformación anorrectal · Síndrome de sordera-nefritis-malformación anorrectal |
| it | Sindrome di Lowe-Kohn-Cohen | Sordità - nefrite - malformazione anorettale |
| nl | Syndroom van Lowe-Kohn-Cohen | Doofheid - nefritis - anorectale malformatie-syndroom |
| pt | Síndrome Lowe-Kohn-Cohen | Síndrome de surdez-nefrite-malformação ano-rectal |
| pl | Zespół Lowego,Kohna i Cohena | Głuchota - zapalenie nerek - malformacja odbytu i odbytnicy |
| cs | Loweho-Kohnův-Cohenův syndrom | Syndrom zahrnující hluchotu, nefritidu a anorektální malformaci · Lowe-Kohn-Cohenův syndrom |
| uk | Синдром Лоу-Кона-Коена | Синдром глухоти-нефриту-аноректальної мальформації · Синдром втрати слуху - нефриту - аноректальної мальформації |
| zh | Lowe-Kohn-Cohen综合征 | 听力损失-肾炎-肛-直肠畸形综合征 |
| tr | Lowe-Kohn-Cohen sendromu | Sağırlık-nefrit-ano-rektal malformasyon sendromu · İşitme kaybı-nefrit-ano-rektal malformasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0016568 | E | validated | |
| UMLS | C4707726 | E | validated | |
| GARD | 1695 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
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 | 1 families | Worldwide | Family(ies) | Validated | 6627722[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6627722[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002023 | Anal atresia | |
| HP:0012732 | Anorectal anomaly | |
| HP:0000112 | Nephropathy | |
| Frequent (79-30%) | ||
| HP:0000384 | Preauricular skin tag | |
| HP:0000407 | Sensorineural hearing impairment | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2408
- This record as JSON: /data/d/2408.json