Thumb stiffness-brachydactyly-intellectual disability syndrome
historical
Synonyms: Piussan-Lenaerts-Mathieu syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thumb stiffness-brachydactyly-intellectual disability syndrome | Piussan-Lenaerts-Mathieu syndrome |
| fr | Syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle | Syndrome de Piussan-Lenaerts-Mathieu |
| de | Steifer Daumen-Brachydaktylie-Intelligenzminderung-Syndrom | Piussan-Lenaerts-Mathieu-Syndrom |
| es | Síndrome de anquilosis de pulgares-braquidactilia-discapacidad intelectual | Síndrome de Piussan-Lenaerts-Mathieu |
| it | Sindrome da rigidità dei pollici, brachidattilia e disabilità intellettiva | Sindrome di Piussan-Lenaerts-Mathieu |
| nl | Stijve duim - brachydactylie - intellectuele achterstand-syndroom | Syndroom van Piussan-Lenaerts-Mathieu |
| pt | Síndrome de polegar rígido-braquidactilia-perturbação do desenvolvimento intelectual | Síndrome Piussan-Lenaerts-Mathieu |
| pl | Sztywność kciuka - brachydaktylia - niepełnosprawność intelektualna | Zespół Piussana, Lenaertsa i Mathieu |
| cs | Syndrom zahrnující tuhost palců, brachydaktylii a mentální retardaci | Piussanův-Lenaertsův-Mathieuův syndrom · Piussan-Lenaerts-Mathieuův syndrom |
| uk | Синдром скутості великого пальця-брахідактилії-інтелектуальної недостатності | Синдром Пюссана-Ленартса-Матьє |
| zh | 拇指僵硬-短肢畸形-智力障碍综合征 | Piussan-Lenaerts-Mathieu综合征 |
| tr | Başparmak sertliği-brakidaktili-zihinsel yetersizlik sendromu | Piussan-Lenaerts-Mathieu sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188201 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008563 | E | validated | |
| MeSH | C537511 | E | validated | |
| UMLS | C2931515 | E | validated | |
| GARD | 4375 | 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 (3):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 7 cases | Worldwide | Case(s) | Validated | 6631421[PMID]_2363441[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6631421[PMID]_2363441[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0009370 | Type A brachydactyly | |
| Frequent (79-30%) | ||
| HP:0001513 | Obesity | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1078
- This record as JSON: /data/d/1078.json