Night blindness-skeletal anomalies-dysmorphism syndrome
historical
Synonyms: Hunter-Thompson-Reed syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- historical
A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Night blindness-skeletal anomalies-dysmorphism syndrome | Hunter-Thompson-Reed syndrome |
| fr | Syndrome de cécité nocturne-anomalies squelettiques-dysmorphie faciale | Syndrome de Hunter-Thompson-Reed |
| de | Nachtblindheit-Skelettanomalien-Dysmorphien-Syndrom | Hunter-Thompson-Reed-Syndrom |
| es | Síndrome de ceguera nocturna-anomalías esqueléticas-dismorfia | |
| it | Cecità notturna - anomalie scheletriche - dismorfismi | Sindrome di Hunter-Thompson-Reed |
| nl | Nachtblindheid - skeletale anomalieën - dysmorfie-syndroom | Syndroom van Hunter-Thompson-Reed |
| pt | Síndrome de cegueira noturna-anomalias esqueléticas-dismorfia | Síndrome Hunter-Thomson-Reed |
| pl | Ślepota nocna - anomalie szkieletowe - dysmorfizm | Zespół Huntera, Thompsona i Reeda |
| cs | Syndrom zahrnující noční slepotu, anomálie skeletu a dysmorfismus | Hunterův-Thompsonův-Reedův syndrom · Hunter-Thompson-Reedův syndrom |
| uk | Синдром нічної сліпоти - скелетних аномалії - дисморфізму | Синдром Хантера-Томпсона-Ріда |
| zh | 夜盲-骨骼异常-畸形综合征 | Hunter-Thompson-Reed综合征 |
| tr | Gece körlüğü-iskelet anomalileri-dismorfizm sendromu | Hunter-Thompson-Reed sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015326 | E | validated | |
| UMLS | C5679607 | E | validated | |
| GARD | 3994 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 314984 [PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_314984 [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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000670 | Carious teeth | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0000286 | Epicanthus | |
| HP:0001382 | Joint hypermobility | |
| HP:0000272 | Malar flattening | |
| HP:0000545 | Myopia | |
| HP:0000662 | Nyctalopia | |
| HP:0000508 | Ptosis | |
| HP:0000278 | Retrognathia | |
| HP:0000664 | Synophrys | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000366 | Abnormality of the nose | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001100 | Heterochromia iridis | |
| HP:0001276 | Hypertonia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002650 | Scoliosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1390
- This record as JSON: /data/d/1390.json