ORPHA:3275
Spondylocarpotarsal synostosis
Synonyms: Synspondylism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylocarpotarsal synostosis | Synspondylism |
| fr | Synostose spondylo-carpo-tarsienne | Synspondylisme congénital |
| de | Spondylo-karpo-tarsale Synostose | Synspondylismus |
| es | Sinostosis espondilo-carpo-tarsal | Sinespondilismo · Sinostosis espondilocarpotarsal |
| it | Sinostosi spondilo-carpo-tarsale | Sinspondilismo |
| nl | Spondylocarpotarsale synostose | Synspondylisme |
| pt | Sinostose espondilo-carpo-társica | Sinspondilia |
| pl | Synostoza kręgowo-nadgarstkowo-skokowa | = en |
| cs | Spondylokarpotarzální synostóza | Synspondylismus |
| uk | Спондилокарпотарзальний синостоз | Синспондилізм |
| zh | 脊柱踝跗骨融合 | 脊椎-腕骨-跗骨融合综合症 |
| tr | Spondilokarpotarsal sinostoz | Synspondilizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272460 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0010094 | E | validated | |
| MeSH | C535780 | E | validated | |
| UMLS | C1848934 | E | validated | |
| GARD | 4974 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93425Filamin-related bone disorder
rare genetic diseases - ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3755 | ENSG00000136068 | 603381 | 3p14.3 | filamin B | 20301736[PMID] |
| MYH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7573 | ENSG00000109063 | 160720 | 17p13.1 | myosin heavy chain 3 | 27381093[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 29566257[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29566257[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.
6
HPO phenotypes
17 annotations · validated 2025-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0009702 | Carpal synostosis | |
| HP:0003498 | Disproportionate short stature | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000365 | Hearing impairment | |
| HP:0002945 | Intervertebral space narrowing | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0008368 | Tarsal synostosis | |
| HP:0002948 | Vertebral fusion | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0001216 | Delayed ossification of carpal bones | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002007 | Frontal bossing | |
| HP:0001763 | Pes planus | |
| HP:0000470 | Short neck | |
Annotation source: 20301736[PMID]_39086440[PMID]_29566257[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3275
- This record as JSON: /data/d/3275.json