Rhizomelic dysplasia, Patterson-Lowry type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood, Infancy
- Status
- active
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rhizomelic dysplasia, Patterson-Lowry type | |
| fr | Dysplasie rhizomélique de Patterson-Lowry | |
| de | Dysplasie, rhizomele, Typ Patterson-Lowry | |
| es | Displasia rizomélica de Patterson-Lowry | |
| it | Displasia rizomelica tipo Patterson-Lowry | Displasia rizomelica, tipo Patterson-Lowry |
| nl | Rhizomele dysplasie, Patterson-Lowry-type | |
| pt | Displasia rizomélica, tipo Patterson-Lowry | |
| pl | Dysplazja rizomeliczna typu Pattersona-Lowry'ego | |
| cs | Rhizomelická dysplázie, Pattersonův-Lowryho typ | Rhizomelická dysplázie, Patterson-Lowryho typ |
| uk | Ризомелічна дисплазія, тип Паттерсона-Лоурі | |
| zh | 肢根型发育不良，Patterson-Lowry型 | |
| tr | Rizomelik displazi, Patterson-Lowry tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601438 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0011079 | E | validated | |
| MeSH | C537609 | E | validated | |
| UMLS | C1832359 | E | validated | |
| GARD | 4703 | 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:93438Mesomelic and rhizo-mesomelic 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 | 5 cases | Worldwide | Case(s) | Validated | 15103724[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15103724[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001156 | Brachydactyly | |
| HP:0002812 | Coxa vara | |
| HP:0005687 | Deformed humeral heads | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0004097 | Deviation of finger | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0002857 | Genu valgum | |
| HP:0003307 | Hyperlordosis | |
| HP:0100729 | Large face | |
| HP:0000303 | Mandibular prognathia | |
| HP:0008905 | Rhizomelia | |
| HP:0005792 | Short humerus | |
| HP:0010049 | Short metacarpal | |
| HP:0003196 | Short nose | |
| HP:0000445 | Wide nose | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2831
- This record as JSON: /data/d/2831.json