Trigonocephaly-broad thumbs syndrome
historical
Synonyms: Hunter-Rudd-Hoffmann syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndromic craniosynostosis characterized by neonatal trigonocephaly with prominent metopic ridge/bregma, hypotelorism, shallow orbits, deviation of the digits, broad thumbs with duplication of the terminal phalanx and clinodactyly. Craniofacial dysmorphism may also include oxycephaly, facial asymmetry, epicanthic folds, ptosis, hooked nose with extended septum (the philtrum may be attached anteriorly on the septum), and a large mouth with a downturned upper lip. Nail and dermatoglyphic abnormalities have also been reported. There have been no further descriptions in the literature since 1976.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trigonocephaly-broad thumbs syndrome | Hunter-Rudd-Hoffmann syndrome |
| fr | Syndrome de trigonocéphalie-anomalies des extrémités | Syndrome de Hunter-Rudd-Hoffmann |
| de | Syndrom der Trigonozephalie mit breiten Daumen | Hunter-Rudd-Hoffmann-Syndrom |
| es | Síndrome de trigonocefalia-pulgares ensanchados | Síndrome de Hunter-Rudd-Hoffmann |
| it | Trigonocefalia - pollici larghi | Sindrome di Hunter-Rudd-Hoffmann |
| nl | Trigonocefalie - brede duimen-syndroom | Syndroom van Hunter-Rudd-Hoffmann |
| pt | Síndrome de trigonocefalia-polegares largos | Síndrome Hunter-Rudd-Hoffmann |
| pl | Trigonocefalia - szerokie kciuki | Zespół Huntera, Rudda i Hoffmanna |
| cs | Syndrom zahrnující trigonocefalii a široké palce na rukou | Hunterův-Ruddův-Hoffmannův syndrom · Hunter-Rudd-Hoffmannův syndrom |
| uk | Синдром тригоноцефалії - широких великих пальців рук | Синдром Хантера-Радда-Гоффмана |
| zh | 三角头畸形-宽拇指综合征 | Hunter-Rudd-Hoffmann 综合征 |
| tr | Trigonosefali-geniş başparmak sendromu | Hunter-Rudd-Hoffmann sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0018064 | E | validated | |
| UMLS | C4304968 | 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:139393Syndromic craniosynostosis
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 | 1271432[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1271432[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3365
- This record as JSON: /data/d/3365.json