ORPHA:2634
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Synonyms: Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelic dwarfism, Reinhardt-Pfeiffer type | Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome |
| fr | Nanisme mésomélique type Reinhardt-Pfeiffer | Dysplasie mésomélique de Reinhardt-Pfeiffer · Syndrome de Reinhardt-Pfeiffer |
| de | Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer | Mesomele Dysplasie Typ Reinhardt-Pfeiffer · Reinhardt-Pfeiffer-Syndrom |
| es | Displasia mesomélica tipo Reinhardt-Pfeiffer | Displasia mesomélica de Reinhardt-Pfeiffer · Enanismo mesomélico tipo Reinhardt-Pfeiffer · Síndrome de Reinhardt-Pfeiffer |
| it | Nanismo mesomelico, tipo Reinhardt-Pfeiffer | Displasia mesomelica di Reinhardt-Pfeiffer · Sindrome di Reinhardt-Pfeiffer |
| nl | Mesomele dwerggroei, Reinhardt-Pfeiffer-type | Mesomele dysplasie, Reinhardt-Pfeiffer-type · Syndroom van Reinhardt-Pfeiffer |
| pt | Nanismo mesomélico, tipo Reinhardt-Pfeiffer | Síndrome Reinhardt-Pfeiffer |
| pl | Niskorosłość mezomeliczna typu Reinhardta i Pfeiffera | Dysplazja mezomeliczna Reinhardta i Pfeiffera · Zespół Reinhardta i Pfeiffera |
| cs | Mezomelické trpaslictví, Reinhardtův-Pfeifferův typ | Reinhardtova-Pfeifferova mezomelická dysplázie · Reinhardtův-Pfeifferův syndrom · Mezomelické trpaslictví, Reinhardt-Pfeifferův typ · Reinhardt-Pfeifferova mezomelická dysplázie · Reinhardt-Pfeifferův syndrom |
| uk | Мезомелічна карликовість, тип Рейнхардта-Пфайфера | Мезомелічна дисплазія Рейнхардта-Пфайфера · Синдром Рейнхардта-Пфайфера |
| zh | 肢中性侏儒，Reinhardt-Pfeiffer型 | Reinhardt-Pfeiffer肢中骨发育不良 |
| tr | Mezomelik cücelik, Reinhardt-Pfeiffer tipi | Reinhardt-Pfeiffer sendromu · Reinhardt-Pfeiffer mezomelik displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191400 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0008618 | E | validated | |
| MeSH | C537349 | E | validated | |
| UMLS | C1860616 | E | validated | |
| GARD | 3555 | 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
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.
6
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0003498 | Disproportionate short stature | |
| HP:0003042 | Elbow dislocation | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0002983 | Micromelia | |
| HP:0003048 | Radial head subluxation | |
| HP:0010781 | Skin dimple | |
| HP:0009465 | Ulnar deviation of finger | |
| Frequent (79-30%) | ||
| HP:0005048 | Synostosis of carpal bones | |
| Occasional (29-5%) | ||
| HP:0000545 | Myopia | |
| HP:0000486 | Strabismus | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2634
- This record as JSON: /data/d/2634.json