Leri pleonosteosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leri pleonosteosis | |
| fr | Pléonostéose | |
| de | Pleonosteose Leri | |
| es | Pleonosteosis | |
| it | Pleonostosi di Léri | |
| nl | Pleonosteose van Leri | |
| pt | Pleonoesteose de Leri | |
| pl | pleonosteoza Lériego (nadmierne kostnienie kości) | |
| cs | Leriho pleonosteóza | |
| uk | Плеоностеоз Лері | |
| zh | LERI氏过早骨化症 | |
| tr | Leri pleonosteoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151200 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0007894 | E | validated | |
| MeSH | C537118 | E | validated | |
| UMLS | C1835450 | E | validated | |
| GARD | 88 | 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:93459Syndrome with synostosis or other joint formation defect
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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
HPO phenotypes
23 annotations · validated 2017-07-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0001156 | Brachydactyly | |
| HP:0011304 | Broad thumb | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001288 | Gait disturbance | |
| HP:0002816 | Genu recurvatum | |
| HP:0001387 | Joint stiffness | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0003510 | Severe short stature | |
| HP:0001072 | Thickened skin | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0100795 | Abnormally straight spine | |
| HP:0000581 | Blepharophimosis | |
| HP:0002967 | Cubitus valgus | |
| HP:0002650 | Scoliosis | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0003042 | Elbow dislocation | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2900
- This record as JSON: /data/d/2900.json