ORPHA:93316
Spondylometaphyseal dysplasia, Schmidt type
Synonyms: Spondylometaphyseal dysplasia with severe genu valgum · Spondylometaphyseal dysplasia, Algerian type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia, Schmidt type | Spondylometaphyseal dysplasia with severe genu valgum · Spondylometaphyseal dysplasia, Algerian type |
| fr | Dysplasie spondylo-métaphysaire type Schmidt | Dysplasie spondylo-métaphysaire avec genu valgum sévère |
| de | Dysplasie, spondylometaphysäre, Typ Schmidt | Dysplasie, spondylometaphysäre, algerischer Typ · Dysplasie, spondylometaphysäre, mit schwerem Genu Valgum |
| es | Displasia espondilometafisaria tipo Schmidt | Displasia espondilometafisaria con genu valgo grave · Displasia espondilometafisaria tipo Argelia |
| it | Displasia spondilometafisaria, tipo Schmidt | Displasia spondilometafisaria con ginocchio valgo grave · Displasia spondilometafisaria, tipo algerino |
| nl | Spondylometafysaire dysplasie, Schmidt-type | Spondylometafysaire dysplasie met ernstige genu valgum · Spondylometafysaire dysplasie, Algerijns type |
| pt | Displasia espondilometafisária, tipo Schmidt | |
| pl | Dysplazja kręgosłupowo-przynasadowa typu Schmidta | Dysplazja kręgosłupowo-przynasadowa typu algierskiego · Dysplazja kręgosłupowo-przynasadowa z cieżką postacią kolan koślwaych |
| cs | Spondylometafyzární dysplázie, Schmidtův typ | Spondylometafyzární dysplázie, alžírský typ · Spondylometafyzární dysplázie s těžkým genu valgum |
| uk | Спондилометафізарна дисплазія, тип Шмідта | Спондилометафізарна дисплазія з тяжким ступенем genu valgum · Спондилометафізарна дисплазія, алжирський тип |
| zh | 脊椎干骺端发育不良，Schmidt 型 | 脊椎干骺端结构不良伴严重膝外翻 |
| tr | Spondilometafizyal displazi, Schmidt tipi | Spondilometafizyal displazi, Cezayir tipi · Ağır genu valgum ile seyreden spondilometafizyal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184253 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0008478 | E | validated | |
| MeSH | C535794 | E | validated | |
| UMLS | C1866688 | E | validated | |
| GARD | 504 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 23653587[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23653587[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
30 annotations · validated 2021-08-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0100255 | Metaphyseal dysplasia | |
| Frequent (79-30%) | ||
| HP:0010574 | Abnormality of the epiphysis of the femoral head | |
| HP:0002867 | Abnormality of the ilium | |
| HP:0002815 | Abnormality of the knee | |
| HP:0002812 | Coxa vara | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0002857 | Genu valgum | |
| HP:0001385 | Hip dysplasia | |
| HP:0003375 | Narrow greater sciatic notch | |
| HP:0000926 | Platyspondyly | |
| HP:0002650 | Scoliosis | |
| HP:0003510 | Severe short stature | |
| HP:0100866 | Short iliac bones | |
| Occasional (29-5%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0000185 | Cleft soft palate | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0008833 | Irregular acetabular roof | |
| HP:0003796 | Irregular iliac crest | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0001561 | Polyhydramnios | |
| HP:0002033 | Poor suck | |
| HP:0100864 | Short femoral neck | |
| HP:0003026 | Short long bone | |
| HP:0000402 | Stenosis of the external auditory canal | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 3368247[PMID]_23653587[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93316
- This record as JSON: /data/d/93316.json