ORPHA:93315
Spondylometaphyseal dysplasia, 'corner fracture' type
Synonyms: Spondylometaphyseal dysplasia, Sutcliffe type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia, 'corner fracture' type | Spondylometaphyseal dysplasia, Sutcliffe type |
| fr | Dysplasie spondylo-métaphysaire type fracture en coins | Dysplasie spondylo-métaphysaire type Sutcliffe |
| de | Dysplasie, spondylometaphysäre, Corner-fracture-Typ | Dysplasie, spondylometaphysäre, Typ Sutcliffe |
| es | Displasia espondilometafisaria tipo fracturas 'en esquina' | Displasia espondilometafisaria tipo Sutcliffe |
| it | Displasia spondilometafisaria, tipo frattura angolata | Displasia spondilometafisaria, tipo Sutcliffe |
| nl | Spondylometafysaire dysplasie, hoekfractuur-type | Spondylometafysaire dysplasie, Sutcliffe-type |
| pt | Displasia espondilometafisária, tipo 'fratura de esquina' | |
| pl | Dysplazja kręgosłupowo-przynasadowa typu 'corner fracture' | Dysplazja kręgosłupowo-przynasadowa typu Sutcliffe'a |
| cs | Spondylometafyzární dysplázie, typ s okrajovými fragmenty metafyzárních zlomenin | Spondylometafyzární dysplázie, Sutcliffův typ |
| uk | Спондилометафізарна дисплазія, тип кутового перелому | Спондилометафізарна дисплазія, тип Саткліффа |
| zh | 脊椎干骺端发育不良，弯角骨折型 | 脊椎干骺端结构不良，Sutcliffe型 |
| tr | Spondilometafizyal displazi, 'köşe kırığı' tipi | Spondilometafizyal displazi, Sutcliffe tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184255 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0008479 | E | validated | |
| MeSH | C535793 | E | validated | |
| UMLS | C0432221 | E | validated | |
| GARD | 4991 | 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 (2):
- ORPHA:254Spondylometaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Candidate gene tested in | Not yet assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 17163530[PMID] |
| FN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3778 | ENSG00000115414 | 135600 | 2q35 | fibronectin 1 | 29100092[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29100092[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.
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HPO phenotypes
54 annotations · validated 2021-08-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0003908 | Corner fracture of metaphysis | |
| HP:0002812 | Coxa vara | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0009763 | Limb pain | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000768 | Pectus carinatum | |
| HP:0002650 | Scoliosis | |
| HP:0003026 | Short long bone | |
| HP:0006385 | Short lower limbs | |
| HP:0009824 | Upper limb undergrowth | |
| Occasional (29-5%) | ||
| HP:0009896 | Abnormality of the antitragus | |
| HP:0004586 | Biconcave vertebral bodies | |
| HP:0004625 | Biconvex vertebral bodies | |
| HP:0000324 | Facial asymmetry | |
| HP:0012368 | Flat face | |
| HP:0000218 | High palate | |
| HP:0002945 | Intervertebral space narrowing | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000545 | Myopia | |
| HP:0000926 | Platyspondyly | |
| HP:0000307 | Pointed chin | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000520 | Proptosis | |
| HP:0000411 | Protruding ear | |
| HP:0000385 | Small earlobe | |
| HP:0002982 | Tibial bowing | |
| HP:0008577 | Underfolded helix | |
| HP:0002948 | Vertebral fusion | |
| HP:0008417 | Vertebral hypoplasia | |
| HP:0008422 | Vertebral wedging | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0031427 | Abnormal circulating osteocalcin level | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0008440 | C1-C2 vertebral abnormality | |
| HP:0030084 | Clinodactyly | |
| HP:0002866 | Hypoplastic iliac wing | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0032208 | Increased urinary type 1 collagen N-terminal telopeptide level | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0007906 | Ocular hypertension | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29100092[PMID]_32200603[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93315
- This record as JSON: /data/d/93315.json