Polysyndactyly-cardiac malformation syndrome
Synonyms: Bonneau syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polysyndactyly-cardiac malformation syndrome | Bonneau syndrome |
| fr | Syndrome de polysyndactylie-malformation cardiaque | Syndrome de Bonneau |
| de | Polysyndaktylie-Herzfehlbildung-Syndrom | Bonneau-Syndrom |
| es | Síndrome de polisindactilia-malformación cardíaca | Síndrome de Bonneau |
| it | Sindrome polisindattilia-cardiopatia | Sindrome di Bonneau |
| nl | Polysyndactylie - hartmalformatie-syndroom | Syndroom van Bonneau |
| pt | Síndrome de polissindactilia-malformação cardíaca | Síndrome Bonneau |
| pl | Polisyndaktylia - wada serca | Zespół Bonneau |
| cs | Syndrom zahrnující polysyndaktylii a srdeční malformaci | Bonneauův syndrom |
| uk | Синдром полісиндактилії-вади серця | Синдром Бонно |
| zh | 多指(趾)并指(趾)畸形-心脏畸形综合征 | Bonneau综合征 |
| tr | Polisindaktili-kardiyak malformasyon sendromu | Bonneau sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263630 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009900 | E | validated | |
| MeSH | C564875 | E | validated | |
| UMLS | C1849719 | E | validated | |
| GARD | 4428 | 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 | 8 cases | Worldwide | Case(s) | Validated | 12749069[PMID]_19400539[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12749069[PMID]_19400539[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
18 annotations · validated 2025-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0010442 | Polydactyly | |
| HP:0001159 | Syndactyly | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0000414 | Bulbous nose | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0006563 | Malformation of the hepatic ductal plate | |
| HP:0000347 | Micrognathia | |
| HP:0001561 | Polyhydramnios | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0000286 | Epicanthus | |
| HP:0000568 | Microphthalmia | |
| HP:0000803 | Renal cortical cysts | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0007902 | Vitreous hemorrhage | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 35602397[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2934
- This record as JSON: /data/d/2934.json