Char syndrome
Synonyms: Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Char syndrome | Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits |
| fr | Syndrome de Char | Syndrome de persistance du canal artériel-dysmorphie faciale-anomalies du cinquième doigt |
| de | Char-Syndrom | Persistierender Ductus arteriosus mit Gesichtsdysmorphie und abnormalen fünften Finger |
| es | Síndrome de Char | Conducto arterioso permeable con dismorfia facial y anomalías del meñique |
| it | Sindrome di Char | Dotto arterioso pervio - dismorfismi facciali - anomalie del V dito |
| nl | Syndroom van Char | Persisterende ductus arteriosus met faciale dysmorfie en abnormale vijfde vingers |
| pt | Síndrome Char | Canal arterial persistente com dismorfia facial e anomalias dos quintos dedos |
| pl | Zespół Char | Przetrwały przewód tętniczy z dysmorfią twarzy i nieprawidłowymi piątymi palcami rąk |
| cs | Char syndrom | Otevřená Botallova tepenná dučej s faciálním dysmorfismem a abnormálním pátým prstem na ruce |
| uk | Синдром Чар | Відкрита артеріальна протока з дисморфізмом обличчя та аномальними пятими пальцями |
| zh | Char综合征 | 动脉导管未闭伴面部畸形和第五指异常 |
| tr | Char sendromu | Fasiyal dismorfizmi ve anormal beşinci basamaklı patent duktus arteriyozus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 169100 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008209 | E | validated | |
| MeSH | C566815 | E | validated | |
| UMLS | C1868570 | E | validated | |
| GARD | 1237 | 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: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 - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TFAP2B | Disease-causing germline mutation(s) in | Assessed | HGNC:11743 | ENSG00000008196 | 601601 | 6p12.3 | transcription factor AP-2 beta | 20301285[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 109 cases | Worldwide | Case(s) | Validated | [EXPERT]_31012281[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000316 | Hypertelorism | |
| HP:0000272 | Malar flattening | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000508 | Ptosis | |
| HP:0000322 | Short philtrum | |
| HP:0012471 | Thick vermilion border | |
| HP:0000207 | Triangular mouth | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006159 | Mesoaxial hand polydactyly | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| Occasional (29-5%) | ||
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0001263 | Global developmental delay | |
| HP:0001161 | Hand polydactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0010112 | Mesoaxial foot polydactyly | |
| HP:0000545 | Myopia | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0000269 | Prominent occiput | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0002558 | Supernumerary nipple | |
| HP:0004218 | Symphalangism of the 5th finger | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/46627
- This record as JSON: /data/d/46627.json