Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Synonyms: Absent tibia-polydactyly syndrome · Werner mesomelic spectrum
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | Absent tibia-polydactyly syndrome · Werner mesomelic spectrum |
| fr | Syndrome d'hémimélie tibiale-polysyndactylie-pouce triphalangé | Spectre mésomélique de Werner · Syndrome d'agénésie tibiale-polydactylie |
| de | Tibia-Hemimelie-Polysyndaktylie-triphalangealer Daumen-Syndrom | Tibia-Agenesie-Polysyndaktylie-Syndrom · Tibia-Aplasie-Polysyndaktylie-Syndrom · Werner mesomeles Spektrum |
| es | Síndrome de hemimelia tibial-polisindactilia-pulgar trifalángico | Espectro mesomélico de Werner · Síndrome de tibia ausente-polidactilia |
| it | Sindrome da emimelia tibiale - polisindattilia - pollici trifalangei | Sindrome aplasia della tibia polidattilia · Spettro mesomelico di Werner |
| nl | Hemimelie van tibia - polysyndactylie - trifalangeale duim-syndroom | Afwezig scheenbeen - polydactylie-syndroom · Mesomeel spectrum van Werner |
| pt | Síndrome de hemimélia tibial-polissindactilia-polegar trifalângico | Espectro mesomélico Werner · Síndrome de tíbia ausente-polidactilia |
| pl | Brak kości piszczelowej - polidaktylia | Zespół hemimelii piszczelowej, polisyndaktylii i kciuka trójpaliczkowego |
| cs | Syndrom zahrnující hemimelii, polysyndaktylii a trifalangeální palec | = en |
| uk | Синдром великогомілкової гемімелії-полісиндактилії-трифалангового великого пальця | Синдром відсутності великогомілкової кістки-полідактилії · Вернерівський мезомелічний спектр |
| zh | 胫侧半肢畸形-多并指（趾）-拇指三节指骨综合征 | 胫骨缺如-多指畸形综合征 |
| tr | Tibial hemimeli-polisindaktili-trifalanjiyal başparmak sendromu | Tibianın olmadığı polidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188740 | NTBT | validated | |
| OMIM | 190605 | NTBT | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008572 | E | validated | |
| MONDO | 8572 | E | validated | |
| MeSH | C535564 | E | validated | |
| UMLS | C4707180 | E | validated | |
| GARD | 8309 | 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 (2):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2950Triphalangeal thumb-polysyndactyly syndrome moved to · inactive
- ORPHA:3332Hypoplastic tibiae-postaxial polydactyly syndrome moved to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMBR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13243 | ENSG00000105983 | 605522 | 7q36.3 | limb development membrane protein 1 | 19847792[PMID] |
| SHH | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | 9600232[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 94 cases | Worldwide | Case(s) | Validated | 10869115[PMID]_2333896[PMID]_39273297[PMID]_24965254[PMID]_24478176[PMID]_24777739[PMID]_2837505[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 10869115[PMID]_2333896[PMID]_39273297[PMID]_24965254[PMID]_24478176[PMID]_24777739[PMID]_2837505[PMID]_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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0005772 | Aplasia/Hypoplasia of the tibia | |
| HP:0006443 | Patellar aplasia | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0005048 | Synostosis of carpal bones | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/988
- This record as JSON: /data/d/988.json