Smith-McCort dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Smith-McCort dysplasia | |
| fr | Dysplasie de Smith-McCort | |
| de | Smith-McCort-Dysplasie | |
| es | Displasia de Smith-McCort | |
| it | Displasia di Smith-McCort | |
| nl | Dysplasie van Smith-McCort | |
| pt | Displasia de Smith-McCort | |
| pl | Dysplazja Smitha i McCorta | |
| cs | Smithova-McCortova dysplázie | Smith-McCortova dysplázie |
| uk | Дисплазія Сміта-МакКорта | |
| zh | Smith-McCort 发育不良 | |
| tr | Smith-McCort displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607326 | BTNT | validated | |
| OMIM | 615222 | BTNT | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0015799 | E | validated | |
| MeSH | C564589 | E | validated | |
| UMLS | C1846431 | E | validated | |
| GARD | 10620 | 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 (1):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYM | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21317 | ENSG00000141627 | 607461 | 18q21.1 | dymeclin | 15464420[PMID]_12491225[PMID] |
| RAB33B | Disease-causing germline mutation(s) in | Assessed | HGNC:16075 | ENSG00000172007 | 605950 | 4q31.1 | RAB33B, member RAS oncogene family | 22652534[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 23042644[PMID]_28127940[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28127940[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178355
- This record as JSON: /data/d/178355.json