Deafness-small bowel diverticulosis-neuropathy syndrome
historical
Synonyms: Groll-Hirschowitz syndrome · Hearing loss-small bowel diverticulosis-neuropathy syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- historical
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-small bowel diverticulosis-neuropathy syndrome | Groll-Hirschowitz syndrome · Hearing loss-small bowel diverticulosis-neuropathy syndrome |
| fr | Syndrome de surdité-diverticulose-neuropathie | Syndrome de Groll-Hirschowitz |
| de | Schwerhörigkeit-Dündarm-Divertikulose-Neuropathie-Syndrom | Groll-Hirschowitz-Syndrom |
| es | Síndrome de sordera-diverticulosis en el intestino delgado-neuropatía | Síndrome de hipoacusia-diverticulosis en el intestino delgado-neuropatía |
| it | Sindrome da sordità-diverticolosi dell'intestino tenue-neuropatia | Sindrome di Groll-Hirschowitz |
| nl | Doofheid - dunnedarmdiverticulose - neuropathie-syndroom | Syndroom van Groll-Hirschowitz |
| pt | Síndrome de surdez-diverticulose do intestino delgado-neuropatia | Síndrome Groll-Hirschowitz |
| pl | Głuchota - uchyłkowatość jelita cienkiego - neuropatia | Zespół Grolla i Hirschowitza |
| cs | Syndrom zahrnující hluchotu, divertikulózu tenkého střeva a neuropatii | Grollův-Hirschowitzův syndrom · Groll-Hirschowitzův syndrom |
| uk | Синдром глухоти - дивертикульозу тонкого кишечника - нейропатії | Синдром Гролла-Гіршовіца · Синдром втрати слуху - дивертикульозу тонкого кишківника - нейропатії |
| zh | 耳聋-小肠憩室-神经病综合征 | 听力丧失-小肠憩室-神经病变综合征 |
| tr | Sağırlık-ince bağırsak divertikülozu-nöropati sendromu | Groll-Hirschowitz sendromu · İşitme kaybı-ince bağırsak divertikülozu-nöropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221400 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009086 | E | validated | |
| MeSH | C537305 | E | validated | |
| UMLS | C1857338 | E | validated | |
| GARD | 2568 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 | 5 cases | Worldwide | Case(s) | Validated | 4028504[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4028504[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 2017-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004326 | Cachexia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0002588 | Duodenal ulcer | |
| HP:0003457 | EMG abnormality | |
| HP:0002301 | Hemiplegia | |
| HP:0002024 | Malabsorption | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002570 | Steatorrhea | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0001265 | Hyporeflexia | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0001156 | Brachydactyly | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0004279 | Short palm | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3217
- This record as JSON: /data/d/3217.json