MCID: PLY133
MIFTS: 16

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 54
Bonneau Syndrome 56 69
Polysyndactyly-Cardiac Malformation Syndrome 56
Polysyndactyly Cardiac Malformation 50

Characteristics:

Orphanet epidemiological data:

56
polysyndactyly-cardiac malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 50 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. last updated: 10/22/2006

MalaCards based summary : Polysyndactyly with Cardiac Malformation, is also known as bonneau syndrome, and has symptoms including hypertelorism, atrial septal defect and polyhydramnios. Affiliated tissues include heart.

Description from OMIM: 263630

Related Diseases for Polysyndactyly with Cardiac Malformation

Symptoms & Phenotypes for Polysyndactyly with Cardiac Malformation

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal- Hands:
syndactyly
preaxial polydactyly

Abdomen- Liver:
hepatic cysts

Prenatal Manifestations- Delivery:
stillborn or neonatal death

Head And Neck- Nose:
anteverted nares (some)

Skin Nails & Hair- Nails:
nail hypoplasia (some)

Genitourinary- Kidneys:
renal cysts

Head And Neck- Face:
facial dysmorphism

Prenatal Manifestations- Amniotic Fluid:
hydramnios

Head And Neck- Eyes:
hypertelorism (some)

Skeletal- Feet:
hallucal duplication


Clinical features from OMIM:

263630

Human phenotypes related to Polysyndactyly with Cardiac Malformation:

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

39
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....