ORPHA:93284
Spondyloepiphyseal dysplasia tarda
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary bone dysplasia characterized by postnatal onset of disproportionate short stature manifesting within the first two decades of life, associated with short trunk and short neck, arm span significantly greater than height, dorsal kyphosis, lumbar hyperlordosis, barrel-shaped chest, and progressive joint and back pain with precocious osteoarthritis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia tarda | |
| fr | Dysplasie spondylo-épiphysaire tardive | |
| de | Dysplasie, spondyloepiphysäre verzögerte | Dysplasia spondyloepiphysaria tarda |
| es | Displasia espondiloepifisaria tardía | |
| it | Displasia spondiloepifisaria tardiva | |
| nl | Spondylo-epifysaire dysplasia tarda | |
| pt | Displasia espondiloepifisária tardia | |
| pl | Dysplazja kręgowo-nasadowa późna | |
| cs | Spondyloepifyzární dysplázie, pozdní typ | |
| uk | Пізня спондилоепіфізарна дисплазія | |
| zh | 迟发性脊椎骨骺发育不良 | |
| tr | Spondiloepifizyal displazi tarda |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184100 | BTNT | validated | |
| OMIM | 271600 | BTNT | validated | |
| OMIM | 313400 | BTNT | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0019667 | E | validated | |
| GARD | 10624 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
Codes that Orphanet moved or referred to this one:
- ORPHA:163673Spondyloepiphyseal dysplasia, Byers type moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRAPPC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:23068 | ENSG00000196459 | 300202 | Xp22.2 | trafficking protein particle complex subunit 2 | 20301324[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
54 annotations · validated 2021-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001552 | Barrel-shaped chest | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0003051 | Enlarged metaphyses | |
| HP:0001508 | Failure to thrive | |
| HP:0004594 | Hump-shaped mound of bone in central and posterior portions of vertebral endplate | |
| HP:0012771 | Increased arm span | |
| HP:0002654 | Multiple epiphyseal dysplasia | |
| HP:0005775 | Multiple skeletal anomalies | |
| HP:0000926 | Platyspondyly | |
| HP:0003088 | Premature osteoarthritis | |
| Frequent (79-30%) | ||
| HP:0002763 | Abnormal cartilage morphology | |
| HP:0010656 | Abnormal epiphyseal ossification | |
| HP:0100712 | Abnormal lumbar spine morphology | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0002829 | Arthralgia | |
| HP:0003365 | Arthralgia of the hip | |
| HP:0003418 | Back pain | |
| HP:0008843 | Hip osteoarthritis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0002945 | Intervertebral space narrowing | |
| HP:0001386 | Joint swelling | |
| HP:0005086 | Knee osteoarthritis | |
| HP:0030839 | Knee pain | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000470 | Short neck | |
| HP:0003855 | Spurred metaphyses of the upper limbs | |
| Occasional (29-5%) | ||
| HP:0003832 | Abnormality of the tibial plateaux | |
| HP:0004586 | Biconcave vertebral bodies | |
| HP:0002812 | Coxa vara | |
| HP:0004637 | Decreased cervical spine mobility | |
| HP:0010575 | Dysplasia of the femoral head | |
| HP:0010231 | Enlarged epiphyses of the phalanges of the hand | |
| HP:0025131 | Finger swelling | |
| HP:0008812 | Flattened femoral head | |
| HP:0003311 | Hypoplasia of the odontoid process | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0009763 | Limb pain | |
| HP:0002996 | Limited elbow movement | |
| HP:0006467 | Limited shoulder movement | |
| HP:0006248 | Limited wrist movement | |
| HP:0040161 | Localized osteoporosis | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0006233 | Osteoarthritis of the distal interphalangeal joint | |
| HP:0002650 | Scoliosis | |
| HP:0100864 | Short femoral neck | |
| HP:0025263 | Stiff knee | |
| HP:0002942 | Thoracic kyphosis | |
| Very rare (<4-1%) | ||
| HP:0003401 | Paresthesia | |
| Excluded (0%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0000175 | Cleft palate | |
| HP:0012649 | Increased inflammatory response | |
| HP:0000541 | Retinal detachment | |
| HP:0100769 | Synovitis | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 27401665[PMID]_32471379[PMID]_20301324[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93284
- This record as JSON: /data/d/93284.json