Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
historical
Synonyms: Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple metaphyseal dysplasia syndrome characterized by metaphyseal dysplasia, short-limb dwarfism (more pronounced in the lower limbs), mild intellectual deficiency and conductive hearing loss that is associated with repeated episodes of otitis media in childhood. Patients usually present with short and cupped ribs, short and broad hands and finger joint laxity. Hyperopia, strabismus, anterior polar cataract, scoliosis, lumbar lordosis and brachydactyly may also be present. There have been no further descriptions in the literature since 1971.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome |
| fr | Syndrome de dysostose métaphysaire-déficience intellectuelle-surdité | |
| de | Metaphysäre Dysostose-Intelligenzminderung-Schallleitungsschwerhörigkeit-Syndrom | |
| es | Síndrome de disostosis metafisaria-discapacidad intelectual-sordera conductiva | Síndrome de disostosis metafisaria-discapacidad intelectual-hipoacusia conductiva |
| it | Sindrome da disostosi metafisaria-disabilità intellettiva-sordità di conduzione | Disostosi metafisaria-disabilità intellettiva-sordità di conduzione |
| nl | Metafysaire dysostose - intellectuele achterstand - conductieve doofheid-syndroom | Metafysaire dysostose - intellectuele achterstand - conductief gehoorverlies-syndroom |
| pt | Síndrome de disostose metafisária-perturbação do desenvolvimento intelectual-surdez de transmissão | Síndrome de disostose metafisária-perturbação do desenvolvimento intelectual-perda auditiva de transmissão |
| pl | Dyzostoza przynasadowa - niepełnosprawność intelektualna- głuchota przewodzeniowa | = en |
| cs | Syndrom zahrnující metafyzární dysostózu, mentální retardaci a převodní hluchotu | = en |
| uk | Синдром метафізарного дизостозу - інтелектуальної недостатності - кондуктивної глухоти | Метафізарний дизостоз - інтелектуальна недостатність - кондуктивна приглухуватість |
| zh | 干骺端成骨不全-智力障碍-传导性耳聋综合征 | 干骺端成骨不全-智力障碍-传导性耳聋综合征 |
| tr | Metafizyel disostoz-zihinsel yetersizlik-iletken sağırlık sendromu | Metafizyal disostoz-zihinsel yetersizlik-iletim tipi işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250420 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009599 | E | validated | |
| UMLS | C4518775 | E | validated | |
| GARD | 3566 | 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 (4):
- 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:93430Multiple metaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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 | 3 cases | Worldwide | Case(s) | Validated | 5173335[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5173335[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
26 annotations · validated 2019-03-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0001256 | Intellectual disability, mild | |
| Frequent (79-30%) | ||
| HP:0009760 | Antecubital pterygium | |
| HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | |
| HP:0002979 | Bowing of the legs | |
| HP:0006417 | Broad femoral metaphyses | |
| HP:0001769 | Broad foot | |
| HP:0001169 | Broad palm | |
| HP:0006009 | Broad phalanx | |
| HP:0006413 | Broad tibial metaphyses | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0008110 | Equinovarus deformity | |
| HP:0003015 | Flared metaphysis | |
| HP:0002970 | Genu varum | |
| HP:0001382 | Joint hypermobility | |
| HP:0003085 | Long fibula | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0003016 | Metaphyseal widening | |
| HP:0002868 | Narrow iliac wings | |
| HP:0000403 | Recurrent otitis media | |
| HP:0100864 | Short femoral neck | |
| HP:0001773 | Short foot | |
| HP:0003026 | Short long bone | |
| HP:0004279 | Short palm | |
| Occasional (29-5%) | ||
| HP:0000540 | Hypermetropia | |
| HP:0000486 | Strabismus | |
Annotation source: 5173335[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2502
- This record as JSON: /data/d/2502.json