Multiple epiphyseal dysplasia, Lowry type
Synonyms: Multiple epiphyseal dysplasia with Robin phenotype
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia, Lowry type | Multiple epiphyseal dysplasia with Robin phenotype |
| fr | Dysplasie épiphysaire multiple type Lowry | Dysplasie épiphysaire multiple avec phénotype de Robin |
| de | Dysplasie, epiphysäre multiple, Typ Lowry | Dysplasie, epiphysäre multiple, mit Robin Phänotyp |
| es | Displasia epifisaria múltiple tipo Lowry | Displasia epifisaria múltiple con fenotipo Robin · Displasia múltiple epifisaria con fenotipo de Pierre Robin |
| it | Displasia epifisaria multipla tipo Lowry | Displasia epifisaria multipla con fenotipo Robin |
| nl | Multipele epifysaire dysplasie, Lowry-type | Meervoudige epifysaire dysplasie met Robin-fenotype · Meervoudige epifysaire dysplasie, Lowry-type |
| pt | Displasia epifisária múltipla, tipo Lowry | |
| pl | Dysplazja wielonasadowa, typ Lowry'ego | Dysplazja wielonasadowa z fenotypem Robina |
| cs | Mnohočetná epifyzární dysplázie, Lowryho typ | Epifyzární dysplázie, Lowryho typ · Mnohočetná epifyzární dysplázie s Robinovým fenotypem |
| uk | Множинна епіфізарна дисплазія, тип Лоурі | Множинна епіфізарна дисплазія з фенотипом Робіна |
| zh | Lowry 型多发性骨骺发育不良 | 多发性骨骺发育不良伴Robin表型 |
| tr | Çoklu epifiz displazisi, Lowry tipi | Robin fenotip ile seyreden çoklu epifizal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601560 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | attributed | validated |
| MONDO | 0011109 | E | validated | |
| MeSH | C563291 | E | validated | |
| UMLS | C1832112 | 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 (1):
- ORPHA:251Multiple epiphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8723087[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8723087[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.
HPO phenotypes
20 annotations · validated 2021-08-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000766 | Abnormal sternum morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000455 | Broad nasal tip | |
| HP:0410005 | Cleft hard palate | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0003083 | Dislocated radial head | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0003071 | Flattened epiphysis | |
| HP:0100168 | Fragmented epiphyses | |
| HP:0002857 | Genu valgum | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0008905 | Rhizomelia | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0010585 | Small epiphyses | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0006471 | Fixed elbow flexion | |
| HP:0006380 | Knee flexion contracture | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8723087[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166016
- This record as JSON: /data/d/166016.json