MCID: PLY133
MIFTS: 17

Polysyndactyly with Cardiac Malformation

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Polysyndactyly with Cardiac Malformation

MalaCards integrated aliases for Polysyndactyly with Cardiac Malformation:

Name: Polysyndactyly with Cardiac Malformation 57
Bonneau Syndrome 57 59 73
Polysyndactyly-Cardiac Malformation Syndrome 59
Polysyndactyly Cardiac Malformation 53

Characteristics:

Orphanet epidemiological data:

59
polysyndactyly-cardiac malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or death in neonatal period.


HPO:

32
polysyndactyly with cardiac malformation:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polysyndactyly with Cardiac Malformation

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2934Disease definitionPolysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).Visit the Orphanet disease page for more resources.

MalaCards based summary : Polysyndactyly with Cardiac Malformation, is also known as bonneau syndrome. Affiliated tissues include heart, and related phenotypes are renal cyst and hypertelorism

Description from OMIM: 263630

Related Diseases for Polysyndactyly with Cardiac Malformation

Symptoms & Phenotypes for Polysyndactyly with Cardiac Malformation

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial septal defect
ventricular septal defect
complex cardiac malformation
cor biloculare

Skeletal Hands:
syndactyly
preaxial polydactyly

Head And Neck Face:
facial dysmorphism

Head And Neck Eyes:
hypertelorism (some)

Skeletal Feet:
hallucal duplication

Prenatal Manifestations Amniotic Fluid:
hydramnios

Abdomen Liver:
hepatic cysts

Genitourinary Kidneys:
renal cysts

Prenatal Manifestations Delivery:
stillborn or neonatal death

Head And Neck Nose:
anteverted nares (some)

Skin Nails Hair Nails:
nail hypoplasia (some)


Clinical features from OMIM:

263630

Human phenotypes related to Polysyndactyly with Cardiac Malformation:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 renal cyst 32 HP:0000107
2 hypertelorism 32 occasional (7.5%) HP:0000316
3 anteverted nares 32 occasional (7.5%) HP:0000463
4 syndactyly 32 HP:0001159
5 preaxial hand polydactyly 32 HP:0001177
6 hepatic cysts 32 HP:0001407
7 polyhydramnios 32 HP:0001561
8 ventricular septal defect 32 HP:0001629
9 atrial septal defect 32 HP:0001631
10 small nail 32 occasional (7.5%) HP:0001792
11 abnormal facial shape 32 HP:0001999
12 duplication of phalanx of hallux 32 HP:0010066

Drugs & Therapeutics for Polysyndactyly with Cardiac Malformation

Search Clinical Trials , NIH Clinical Center for Polysyndactyly with Cardiac Malformation

Genetic Tests for Polysyndactyly with Cardiac Malformation

Anatomical Context for Polysyndactyly with Cardiac Malformation

MalaCards organs/tissues related to Polysyndactyly with Cardiac Malformation:

41
Heart

Publications for Polysyndactyly with Cardiac Malformation

Variations for Polysyndactyly with Cardiac Malformation

Expression for Polysyndactyly with Cardiac Malformation

Search GEO for disease gene expression data for Polysyndactyly with Cardiac Malformation.

Pathways for Polysyndactyly with Cardiac Malformation

GO Terms for Polysyndactyly with Cardiac Malformation

Sources for Polysyndactyly with Cardiac Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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