Trigonocephaly-bifid nose-acral anomalies syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trigonocephaly-bifid nose-acral anomalies syndrome | |
| fr | Syndrome de trigonocéphalie-nez bifide-anomalies des extrémités | |
| de | Trigonozephalie-bifide Nase-akrale Anomalien-Syndrom | |
| es | Síndrome de trigonocefalia-nariz bífida-anomalías acrales | |
| it | Sindrome da trigonocefalia-naso bifido-anomalie acrali | |
| nl | Trigonocefalie - gespleten neus - acrale anomalieën-syndroom | |
| pt | Síndrome de trigonocefalia-nariz bífido-anomalias acrais | |
| pl | Trigonocefalia - rozszczep nosa - anomalie kończyn | |
| cs | Syndrom zahrnující trigonocefalii, rozštěpený nos a akrální anomálie | |
| uk | Синдром тригоноцефалії-роздвоєного носа-аномалій черепа | |
| zh | 三角头畸形-鼻裂-肢端异常综合征 | |
| tr | Trigonosefali-bifid burun-akral anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275595 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0010154 | E | validated | |
| UMLS | C4304969 | E | validated | |
| GARD | 5126 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 2063891[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2063891[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/3368
- This record as JSON: /data/d/3368.json