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 53
Bonneau Syndrome 53 55 69
Polysyndactyly-Cardiac Malformation Syndrome 55
Polysyndactyly Cardiac Malformation 49

Characteristics:

Orphanet epidemiological data:

55
polysyndactyly-cardiac malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or death in neonatal period.


HPO:

31
polysyndactyly with cardiac malformation:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polysyndactyly with Cardiac Malformation

NIH Rare Diseases : 49 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, abnormal facial shape and anteverted nares. 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:

53
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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 occasional (7.5%) HP:0000316
2 abnormal facial shape 31 HP:0001999
3 anteverted nares 31 occasional (7.5%) HP:0000463
4 atrial septal defect 31 HP:0001631
5 small nail 31 occasional (7.5%) HP:0001792
6 hepatic cysts 31 HP:0001407
7 polyhydramnios 31 HP:0001561
8 ventricular septal defect 31 HP:0001629
9 preaxial hand polydactyly 31 HP:0001177
10 renal cyst 31 HP:0000107
11 syndactyly 31 HP:0001159
12 duplication of phalanx of hallux 31 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:

38
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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