Spondyloepiphyseal dysplasia, Reardon type
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, vertebral abnormalities (including irregular vertebral endplates especially in the dorsal spine, lumbar lordosis, spondylolysis, spondylolisthesis), femoral abnormalities (including small femoral capital epiphyses, flat femoral head and subluxation and sloping acetabulum) and cervical spine abnormalities typically manifest as atlantoaxial subluxation and instability associated with os odontoideum. Affected individuals present with severe neurological complications following minor trauma due to cervical instability, including quadriparesis, brisk reflexes, clonus, spasticity, bulbar palsy and seizures. Additional clinical features may include mild joint laxity, short, clubbed fingers, wasting of small hand muscles, tongue fasciculations and progressive breathing difficulty. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia, Reardon type | |
| fr | Dysplasie spondylo-épiphysaire type Reardon | |
| de | Dysplasie, spondyloepiphysäre, Typ Reardon | |
| es | Displasia espondiloepifisaria tipo Reardon | |
| it | Displasia spondiloepifisaria, tipo Reardon | |
| nl | Spondylo-epifysaire dysplasie, Reardon-type | |
| pt | Displasia espondiloepifisária, tipo Reardon | |
| pl | Dysplazja kręgowo-nasadowa, typ Reardona | |
| cs | Spondyloepifyzární dysplázie, Reardonův typ | |
| uk | Спондилоепіфізарна дисплазія, тип Ріардона | |
| zh | Reardon 型脊柱骨骺发育不良 | |
| tr | Spondiloepifizyal displazi, Reardon tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600561 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0010902 | E | validated | |
| UMLS | C4305148 | 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: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 | 1 families | Worldwide | Family(ies) | Validated | 7747755[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7747755[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/163662
- This record as JSON: /data/d/163662.json