Metatropic dysplasia
Synonyms: Metatropic dwarfism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metatropic dysplasia | Metatropic dwarfism |
| fr | Dysplasie métatropique | Nanisme métatropique |
| de | Metatrope Dysplasie | Kleinwuchs, metatroper |
| es | Displasia metatrópica | Enanismo metatrópico |
| it | Displasia metatropica | Nanismo metatropico |
| nl | Metatropische dysplasie | Metatropische dwerggroei |
| pt | Displasia metatrópica | Nanismo metatrópico |
| pl | Dysplazja zmienna typu 1 | Karłowatość metatropiczna |
| cs | Metatropická dysplázie | Metatropické trpaslictví |
| uk | Метатропна дисплазія | Метатропна карликовість |
| zh | 变型骨发育不良 | 间相性侏儒 |
| tr | Metatropik displazi | Metatropik cücelik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156530 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0007986 | E | validated | |
| MeSH | C537356 | E | validated | |
| UMLS | C0265281 | E | validated | |
| GARD | 3571 | E | validated | |
| MedDRA | 10082970 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364820TRPV4-related bone disorder
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:93427OBSOLETE: Metatropic dysplasias referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 22791502[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 81 cases | Worldwide | Case(s) | Validated | ORPHANET_24223250[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0003336 | Abnormal enchondral ossification | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002826 | Halberd-shaped pelvis | |
| HP:0000348 | High forehead | |
| HP:0008434 | Hypoplastic cervical vertebrae | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0100818 | Long thorax | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0002650 | Scoliosis | |
| HP:0003510 | Severe short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Occasional (29-5%) | ||
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000238 | Hydrocephalus | |
| HP:0000358 | Posteriorly rotated ears | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2635
- This record as JSON: /data/d/2635.json