ORPHA:263463
CHST3-related skeletal dysplasia
Synonyms: Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type · Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHST3-related skeletal dysplasia | Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type · Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type |
| fr | Dysplasie squelettique associée à CHST3 | Chondrodysplasie avec luxations congénitales type CHST3 · Dysplasie spondylo-épiphysaire avec luxations congénitales type CHST3 · SDCD type CHST3 |
| de | CHST3-assoziierte Skelettdysplasie | Chondrodysplasie mit kongenitalen Gelenksdislokationen Typ CHST3 · Dysplasie, spondyloepiphysäre, mit kongenitalen Gelenksdislokationen Typ CHST3 · SDCD, CHST3-Typ |
| es | Displasia esquelética asociada a CHST3 | Condrodisplasia con luxaciones articulares congénitas tipo CHST3 · Displasia espondiloepifisaria con luxaciones congénitas de las articulaciones tipo CHST3 · SDCD tipo CHST3 |
| it | Displasia scheletrica associata a CHST3 | Condrodisplasia con dislocazioni articolari congenite, tipo CHST3 · Sindrome di Larsen autosomica recessiva |
| nl | CHST3-gerelateerde skeletdysplasie | Chondrodysplasie met congenitale gewrichtsluxaties, CHST3-type · SDCD, CHST3-type · Spondylo-epifysaire dysplasie met congenitale gewrichtsluxaties, CHST3-type |
| pt | Displasia esquelética CHST3-relacionada | |
| pl | Dysplazja szkieletowa zależna od CHST3 | Chondrodysplazja z wrodzonym zwichnięciem stawów, typu CHST3 · Dysplazja kręgosłupowo-nasadowa z wrodzonym zwichnięciem stawów, typu CHST3 |
| cs | CHST3-vázaná skeletální dysplázie | SDCD typ CHST3 · Autozomálně recesivní Larsenův syndrom · Chondrodysplázie s vrozenou dislokací kloubů, typ CHST3 · Spondyloepifyzární dysplázie s vrozenou dislokací kloubů, typ CHST3 |
| uk | Скелетна дисплазія, повязана з CHST3 | Хондродисплазія з вродженими вивихами суглобів, тип CHST3 · SDCD, тип CHST3 · Спондилоепіфізарна дисплазія з вродженими дислокаціями суглобів, тип CHST3 |
| zh | CHST3基因相关骨骼发育不良 | CHST3型脊柱骨骺发育不良伴先天性关节脱位 |
| tr | CHST3 -ilişkili iskelet displazisi | SDCD, CHST3 tipi · Doğumsal eklem çıkıkları ile seyreden kondrodisplazi, CHST3 tipi · Doğumsal eklem çıkıkları ile seyreden spondiloepifizyal displazi, CHST3 tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 143095 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0007738 | E | validated | |
| MONDO | 7738 | E | validated | |
| UMLS | C1837657 | E | validated | |
| GARD | 13169 | 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 (3):
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1792Humerospinal dysostosis moved to · inactive
- ORPHA:93280Spondyloepiphyseal dysplasia, Omani type moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHST3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1971 | ENSG00000122863 | 603799 | 10q22.1 | carbohydrate sulfotransferase 3 | 20830804[PMID]_21882400[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 24458487[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24458487[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
26 annotations · validated 2017-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0002829 | Arthralgia | |
| HP:0001552 | Barrel-shaped chest | |
| HP:0001156 | Brachydactyly | |
| HP:0002967 | Cubitus valgus | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0003037 | Enlarged joints | |
| HP:0001371 | Flexion contracture | |
| HP:0002857 | Genu valgum | |
| HP:0000316 | Hypertelorism | |
| HP:0002945 | Intervertebral space narrowing | |
| HP:0010582 | Irregular epiphyses | |
| HP:0008905 | Rhizomelia | |
| HP:0002650 | Scoliosis | |
| HP:0010585 | Small epiphyses | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002515 | Waddling gait | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000337 | Broad forehead | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000343 | Long philtrum | |
| HP:0001270 | Motor delay | |
| HP:0010049 | Short metacarpal | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19320654[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263463
- This record as JSON: /data/d/263463.json