Polysyndactyly - cardiac malformation

General Information (adopted from Orphanet):

Synonyms, Signs: bonneau syndrome
Number of Symptoms 40
OrphanetNr: 2934
OMIM Id: 263630
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] rare [HPO:skoehler] 644 / 7739
2
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
3
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
4
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
5
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
6
 (HPO:0006695) Atrioventricular canal defect Frequent [Orphanet] 27 / 7739
7
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
8
 (HPO:0001669) Transposition of the great arteries Occasional [Orphanet] 36 / 7739
9
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
10
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
11
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
12
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
13
 (HPO:0001177) Preaxial hand polydactyly 59 / 7739
14
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
15
 (HPO:0001830) Postaxial foot polydactyly Very frequent [Orphanet] 37 / 7739
16
 (HPO:0010066) Duplication of phalanx of hallux 9 / 7739
17
 (HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
18
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
19
 (HPO:0100258) Preaxial polydactyly 39 / 7739
20
 (HPO:0001159) Syndactyly 140 / 7739
21
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
22
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
23
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
24
 (HPO:0001792) Small nail rare [HPO:skoehler] 55 / 7739
25
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
26
 (HPO:0001407) Hepatic cysts 9 / 7739
27
 (HPO:0001999) Abnormal facial shape 169 / 7739
28
 (HPO:0000288) Abnormality of the philtrum Occasional [Orphanet] 54 / 7739
29
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
30
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
31
 (HPO:0000463) Anteverted nares Frequent [Orphanet] rare [HPO:skoehler] 305 / 7739
32
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
33
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
34
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
37
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
38
 (HPO:0003826) Stillbirth 40 / 7739
39
 (MedDRA:10010967) Cor biloculare 1 / 7739
40
 (OMIM) Complex cardiac malformation 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bonneau et al. (1983) described a family in which normal, unrelated parents had 3 children, all with polysyndactyly and a complex cardiac malformation: atrial and ventricular septal defects in 1 and cor biloculare in a second. The hexadactyly ...