Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome | |
| fr | Syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle | |
| de | Aortenbogenanomalie-Gesichtsdysmorphie-Intelligenzminderung-Syndrom | |
| es | Síndrome de anomalías del arco aórtico-dismorfia facial-discapacidad intelectual | |
| it | Sindrome anomalia dell'arco aortico-dismorfismi facciali-disabilità intellettiva | |
| nl | Aortabooganomalie - faciale dysmorfie - intellectuele achterstand-syndroom | |
| pt | Sindrome de anomalia do arco aórtico-dismorfia facial-perturbação do desenvolvimento intelectual | |
| pl | Zespół wad łuku aorty, dysmorfii twarzy i niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující anomálii aortálního oblouku, zvláštní facies a mentální retardaci | |
| uk | Синдром аномалії дуги аорти - дизморфізму обличчя - інтелектуальної недостатності | |
| zh | 主动脉弓异常-面部畸形-智力障碍综合征 | |
| tr | Aortik ark anomalisi-yüz dismorfizmi-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107500 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007143 | E | validated | |
| MeSH | C537785 | E | validated | |
| UMLS | C4706520 | E | validated | |
| GARD | 739 | 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: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 | 4 cases | Worldwide | Case(s) | Validated | 5696314[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5696314[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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0000337 | Broad forehead | |
| HP:0000670 | Carious teeth | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000324 | Facial asymmetry | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0000160 | Narrow mouth | |
| HP:0002623 | Overriding aorta | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000708 | Atypical behavior | |
| HP:0002970 | Genu varum | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000303 | Mandibular prognathia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1110
- This record as JSON: /data/d/1110.json