Spondyloepiphyseal dysplasia tarda, Kohn type
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficiency. Typical radiographic features include platyspondyly, abnormal lumbar vertebral bodies with anterior tongue-like protrusions, and the presence of degenerative large joint changes in the shoulder, hip and knee joints manifesting as narrowing of the joint spaces and irregularities of the articulate surfaces. Dens epistropheus may be absent. 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 tarda, Kohn type | |
| fr | Dysplasie spondylo-épiphysaire tardive type Kohn | |
| de | Dysplasie, spondyloepiphysäre verzögerte, Typ Kohn | Dysplasia spondyloepiphysaria tarda vom Typ Kohn |
| es | Displasia espondiloepifisaria tarda tipo Kohn | |
| it | Displasia spondiloepifisaria tardiva, tipo Kohn | |
| nl | Spondylo-epifysaire dysplasia tarda, Kohn-type | |
| pt | Displasia espondiloepifisária tardia, tipo Kohn | |
| pl | Dysplazja kręgowo-nasadowa, typ Kohna | |
| cs | Spondyloepifyzární dysplázie s pozdním nástupem, Kohnův typ | |
| uk | Спондилоепіфізарна дисплазія пізня, тип Кона | |
| zh | Kohn型迟发性脊柱骨骺发育不良 | |
| tr | Spondiloepifizyal displazi tarda, Kohn tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271620 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0010073 | E | validated | |
| UMLS | C4304888 | 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 (3):
- 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: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 | 3 cases | Worldwide | Case(s) | Validated | 3612708[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3612708[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
11 annotations · validated 2019-09-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0002867 | Abnormality of the ilium | |
| HP:0002815 | Abnormality of the knee | |
| HP:0010665 | Bilateral coxa valga | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0000926 | Platyspondyly | |
| HP:0005193 | Restricted large joint movement | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
Annotation source: 3612708[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163665
- This record as JSON: /data/d/163665.json