ORPHA:2557
Mietens syndrome
Synonyms: Intellectual disability, Mietens-Weber type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mietens syndrome | Intellectual disability, Mietens-Weber type |
| fr | Syndrome de Mietens | Déficience intellectuelle type Mietens-Weber |
| de | Mietens-Syndrom | Intelligenzminderung Typ Mietens-Weber |
| es | Síndrome de Mietens | Discapacidad intelectual tipo Mietens-Weber |
| it | Sindrome di Mietens | Disabilità intellettiva, tipo Mietens-Weber |
| nl | Syndroom van Mietens | Intellectuele achterstand, Mietens-Weber-type |
| pt | Síndrome Mietens | Perturbação do desenvolvimento intelectual tipo Mietens-Weber |
| pl | Zespół Mietensa | Niepełnosprawność intelektualna, typu Mietensa i Webera |
| cs | Mietensův syndrom | Mentální retardace, Mietensův-Weberův typ · Mentální retardace, Mietens-Weberův typ |
| uk | Синдром Мєтена | Інтелектуальна недостатність, тип Мітенса-Вебера |
| zh | Mietens综合征 | 智力障碍，Mietens-Weber 综合征 |
| tr | Mietens sendromu | Zihinsel yetersizlik, Mietens-Weber tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249600 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0009582 | E | validated | |
| MeSH | C537444 | E | validated | |
| UMLS | C0265249 | E | validated | |
| GARD | 3524 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- 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 - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 16760739[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16760739[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.
6
HPO phenotypes
32 annotations · validated 2017-07-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002381 | Aphasia | |
| HP:0007957 | Corneal opacity | |
| HP:0010529 | Echolalia | |
| HP:0003042 | Elbow dislocation | |
| HP:0001263 | Global developmental delay | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0002300 | Mutism | |
| HP:0000639 | Nystagmus | |
| HP:0003510 | Severe short stature | |
| HP:0003196 | Short nose | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0003070 | Elbow ankylosis | |
| HP:0000348 | High forehead | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0000518 | Cataract | |
| HP:0002673 | Coxa valga | |
| HP:0002812 | Coxa vara | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000647 | Sclerocornea | |
| HP:0001883 | Talipes | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2557
- This record as JSON: /data/d/2557.json