Spondyloepiphyseal dysplasia, MacDermot type
historical
Synonyms: Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes including lumbar lordosis and platyspondyly and sensorineural deafness. Adult-onset myopia and retinal detachment have been reported in some patients. Additional clinical features may include clinodactyly, pes planus and prominent heel. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia, MacDermot type | Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome |
| fr | Dysplasie spondylo-épiphysaire type MacDermot | Syndrome de dysplasie spondylo-épiphysaire-myopie-surdité sensorielle |
| de | Dysplasie, spondyloepiphysäre, Typ MacDermot | Spondyloepiphysäre Dysplasie - Myopie - sensorineuraler Hörverlust |
| es | Displasia espondiloepifisaria tipo MacDermot | Síndrome de displasia espondiloepifisaria-miopía-hipoacusia neurosensorial · Síndrome de displasia espondiloepifisaria-miopía-sordera neurosensorial |
| it | Displasia spondiloepifisaria tardiva, tipo MacDermot | Displasia spondilometafisaria - miopia - sordità neurosensoriale |
| nl | Spondylo-epifysaire dysplasie, MacDermot-type | Spondylo-epifysaire dysplasie - myopie - sensorineuraal gehoorverlies-syndroom · Spondylo-epifysaire dysplasie - myopie - sensorineurale doofheid-syndroom |
| pt | Displasia espondiloepifisária tardia, tipo MacDermot | |
| pl | Dysplazja kręgowo-nasadowa, typ MacDermota | Spondyloepiphyseal dysplasia - myopia - sensorineural deafness |
| cs | Spondyloepifyzární dysplázie, MacDermotové typ | Syndrom zahrnující spondyloepifyzární dysplázii, myopii a senzorineurální hluchotu |
| uk | Спондилоепіфізарна дисплазія, тип МакДермота | Спондилоепіфізарна дисплазія-міопія-сенсоневральна приглухуватість · Спондилоепіфізарна дисплазія-міопія-сенсоневральна приглухуватість |
| zh | MacDermot 型脊柱骨骺发育不良 | 脊柱骨骺发育不良-近视-感音神经性聋综合征 |
| tr | Spondiloepifizyal displazi, MacDermot tipi | Spondiloepifizyal displazi-miyopi-sensörinöral sağırlık sendromu · Spondiloepifizeal displazi-miyopi-sensörinöral işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184000 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0008472 | E | validated | |
| UMLS | C4305149 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 4 cases | Worldwide | Case(s) | Validated | 3681905[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3681905[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163668
- This record as JSON: /data/d/163668.json