ORPHA:1836
Mesomelic dysplasia, Kantaputra type
Synonyms: Kantaputra mesomelic dysplasia · MDK · Mesomelic dysplasia, Thai type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelic dysplasia, Kantaputra type | Kantaputra mesomelic dysplasia · MDK · Mesomelic dysplasia, Thai type |
| fr | Dysplasie mésomélique type Kantaputra | Dysplasie mésomélique de Kantaputra · Dysplasie mésomélique type Thaï · MDK |
| de | Dysplasie, mesomele, Typ Kantaputra | |
| es | Displasia mesomélica tipo Kantaputra | Displasia mesomélica de Kantaputra · Displasia mesomélica tipo Thai · MDK |
| it | Displasia mesomelica, tipo Kantaputra | Displasia mesomelica di Kantaputra · Displasia mesomelica, tipo Thai · MDK |
| nl | Mesomele dysplasie, Kantaputra-type | MDK · Mesomele dysplasie van Kantaputra · Mesomele dysplasie, Thai-type |
| pt | Displasia mesomélica, tipo Kantaputra | Displasia mesomélica, tipo Thai |
| pl | Dysplazja mezomeliczna typu Kantaputra | Dysplazja mezomeliczna Kantaputra · Dysplazja mezomeliczna typu tajskiego · MDK |
| cs | Mesomelická dysplázie, Kantaputrův typ | Kantaputrova mesomelická dysplázie · MDK · Mesomelická dysplázie, thajský typ |
| uk | Мезомелічна дисплазія, тип Кантапутра | Мезомелічна дисплазія Кантапутра · MDK · Мезомелічна дисплазія, тайський тип |
| zh | 肢中骨发育不良，Kantaputra型 | 肢中发育不良，Thai型 |
| tr | Mezomelik displazi, Kantaputra tipi | MDK · Kantaputra mezomelik displazi · Mezomelik displazi, Tay tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156232 | E | validated | |
| OMIM | 613681 | BTNT | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0007977 | E | validated | |
| MeSH | C535547 | E | validated | |
| UMLS | C1835009 | E | validated | |
| GARD | 3074 | 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 (1):
- ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 15211647[PMID]_15264287[PMID]_1481840[PMID]_20577005[PMID]_21654727[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15211647[PMID]_15264287[PMID]_1481840[PMID]_20577005[PMID]_21654727[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0005009 | Dumbbell-shaped humerus | |
| HP:0003027 | Mesomelia | |
| HP:0004322 | Short stature | |
| HP:0008368 | Tarsal synostosis | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0009465 | Ulnar deviation of finger | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0002967 | Cubitus valgus | |
| HP:0001883 | Talipes | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 8 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1836
- This record as JSON: /data/d/1836.json