Platyspondylic dysplasia, Torrance type
Synonyms: PLSD-T · Platyspondylic dysplasia, Torrance-Luton type · Platyspondylic lethal skeletal dysplasia, Torrance type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the <i>COL2A1</i> gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Platyspondylic dysplasia, Torrance type | PLSD-T · Platyspondylic dysplasia, Torrance-Luton type · Platyspondylic lethal skeletal dysplasia, Torrance type |
| fr | Dysplasie platyspondylique type Torrance | Dysplasie platyspondylique type Torrance-Luton · PLSD-T |
| de | Dysplasie, platyspondylitische, Typ Torrance | PLSD-T · Platyspondylitische Dysplasie Typ Torrance-Luton · Platyspondylitische Skelettdysplasie, letale, Typ Torrance |
| es | Displasia platispondílica tipo Torrance | Displasia platispondílica esquelética letal tipo Torrance · Displasia platispondílica tipo Torrance-Luton · PLSD-T |
| it | Displasia platispondilica, tipo Torrance | Displasia platispondilica, tipo Torrance-Luton · Displasia scheletrica platispondilica letale, tipo Torrance · PLSD-T |
| nl | Platyspondylische dysplasie, Torrance-type | PLSD-T · Platyspondylische dysplasie, Torrance-Luton-type · Platyspondylische letale skeletdysplasie, Torrance-type |
| pt | Displasia platispondílica, tipo Torrance-Luton | |
| pl | Dysplazja platyspondyliczna typu Torrance'a | Dysplazja platyspondyliczna, typ Torrance'a i Lutona · plSD-T · Śmiertelna dysplazja platyspondyliczna, typ Torrance'a |
| cs | Platyspondylická dysplázie, Torranceho typ | PLSD-T · Platyspondylická letální skeletální dysplázie, Torranceho typ · Platyspondylická dysplázie, Torranceho-Lutonův typ · Platyspondylická dysplázie, Torrance-Lutonův typ |
| uk | Пластинчаста дисплазія, тип Торренса | Пластинчаста дисплазія, тип Торренса-Лютона · Платиспондилярна летальна скелетна дисплазія, тип Торренса · PLSD-T |
| zh | 扁平椎骨发育异常，Torrance型 | 扁椎骨致死性骨骼发育不良，Torrance型 |
| tr | Platispondilik displazi, Torrance tipi | PLSD-T · Platispondilik displazi, Torrance-Luton tipi · Platispondilik letal iskelet displazisi, Torrance tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151210 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0007895 | E | validated | |
| MeSH | C563627 | E | validated | |
| UMLS | C1835437 | E | validated | |
| GARD | 4382 | 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 (2):
- ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
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 | 15643621[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001191 | Abnormal carpal morphology | |
| HP:0006487 | Bowing of the long bones | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis | |
| HP:0008839 | Hypoplastic pelvis | |
| HP:0003021 | Metaphyseal cupping | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0000926 | Platyspondyly | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0010306 | Short thorax | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0002970 | Genu varum | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0001561 | Polyhydramnios | |
| HP:0011220 | Prominent forehead | |
| HP:0002089 | Pulmonary hypoplasia | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85166
- This record as JSON: /data/d/85166.json