ORPHA:93352
Spondyloepimetaphyseal dysplasia, Shohat type
Synonyms: SEMD, Shohat type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, Shohat type | SEMD, Shohat type |
| fr | Dysplasie spondylo-épimétaphysaire type Shohat | SEMD type Shohat |
| de | Dysplasie, spondyloepimetaphysäre, Typ Shohat | |
| es | Displasia espondiloepimetafisaria tipo Shohat | SEMD tipo Shohat |
| it | Displasia spondiloepimetafisaria, tipo Shohat | SEMD, tipo Shohat |
| nl | Spondylo-epimetafysaire dysplasie, Shohat-type | SEMD, Shohat-type |
| pt | Displasia espondiloepimetafisária, tipo Shohat | SEMD, tipo Shohat |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa typu Shohat | SEMD, typ Shohat |
| cs | Spondyloepimetafyzární dysplázie, Shohatův typ | SEMD, Shohatův typ |
| uk | Спондилоепіметафізарна дисплазія, тип Шохата | SEMD, тип Shohat |
| zh | 脊椎干骺端发育不良，Shohat型 | SEMD，Shohat型 |
| tr | Spondiloepimetafizyal displazi, Shohat tipi | SEMD, Shohat tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602557 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0011252 | E | validated | |
| MeSH | C566523 | E | validated | |
| UMLS | C1865185 | E | validated | |
| GARD | 4980 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDRGK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16110 | ENSG00000198171 | 616177 | 20p13 | DDRGK domain containing 1 | 28263186[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 8357004[PMID]_8074146[PMID]_28263186[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28263186[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
33 annotations · validated 2021-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002829 | Arthralgia | |
| HP:0008463 | Central vertebral hypoplasia | |
| HP:0003498 | Disproportionate short stature | |
| HP:0003015 | Flared metaphysis | |
| HP:0006462 | Generalized bone demineralization | |
| HP:0003016 | Metaphyseal widening | |
| HP:0000926 | Platyspondyly | |
| HP:0003088 | Premature osteoarthritis | |
| HP:0002650 | Scoliosis | |
| HP:0003510 | Severe short stature | |
| HP:0003026 | Short long bone | |
| HP:0005257 | Thoracic hypoplasia | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0025426 | Abnormal bronchus morphology | |
| HP:0002979 | Bowing of the legs | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0003099 | Fibular overgrowth | |
| HP:0002970 | Genu varum | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001609 | Hoarse voice | |
| HP:0003307 | Hyperlordosis | |
| HP:0001382 | Joint hypermobility | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0009826 | Limb undergrowth | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0008450 | Narrow vertebral interpedicular distance | |
| HP:0000470 | Short neck | |
| HP:0008418 | Squared-off platyspondyly | |
| HP:0002777 | Tracheal stenosis | |
| HP:0002781 | Upper airway obstruction | |
| HP:0002953 | Vertebral compression fracture | |
Annotation source: 28263186[PMID]_8074146[PMID]_8357004[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93352
- This record as JSON: /data/d/93352.json