MCID: PHV001
MIFTS: 20

Phaver Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Phaver Syndrome

MalaCards integrated aliases for Phaver Syndrome:

Name: Phaver Syndrome 56 52 58
Pterygia Heart Defects Autosomal Recessive Inheritance Vertebral Defects Ear Anomalies and Radial Defects 52
Powell-Chandra-Saal Syndrome 58
Powell Chandra Saal Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
phaver syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Phaver Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2876 Definition Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects. Epidemiology It has been described in two sibs. One of the sibs also had a myelomeningocele. Genetic counseling The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance. Visit the Orphanet disease page for more resources.

MalaCards based summary : Phaver Syndrome, also known as pterygia heart defects autosomal recessive inheritance vertebral defects ear anomalies and radial defects, is related to vater/vacterl association and autosomal recessive disease. Affiliated tissues include heart, and related phenotypes are intrauterine growth retardation and low-set ears

More information from OMIM: 261575

Related Diseases for Phaver Syndrome

Diseases related to Phaver Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vater/vacterl association 10.2
2 autosomal recessive disease 10.2
3 myelomeningocele 10.2
4 vacterl association 10.2

Symptoms & Phenotypes for Phaver Syndrome

Human phenotypes related to Phaver Syndrome:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
4 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
5 butterfly vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0003316
6 pterygium 58 31 hallmark (90%) Very frequent (99-80%) HP:0001059
7 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
9 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
10 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
11 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
12 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
13 coarctation of aorta 58 31 frequent (33%) Frequent (79-30%) HP:0001680
14 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
15 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
16 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
17 aplasia/hypoplasia of the earlobes 58 31 frequent (33%) Frequent (79-30%) HP:0009906
18 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
19 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
20 short thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009778
21 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
22 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
23 hypoplastic aortic arch 58 31 frequent (33%) Frequent (79-30%) HP:0012304
24 myelomeningocele 58 31 frequent (33%) Frequent (79-30%) HP:0002475
25 pulmonary artery atresia 58 31 frequent (33%) Frequent (79-30%) HP:0004935
26 abnormal form of the vertebral bodies 58 Very frequent (99-80%)

Clinical features from OMIM:

261575

Drugs & Therapeutics for Phaver Syndrome

Search Clinical Trials , NIH Clinical Center for Phaver Syndrome

Genetic Tests for Phaver Syndrome

Anatomical Context for Phaver Syndrome

MalaCards organs/tissues related to Phaver Syndrome:

40
Heart

Publications for Phaver Syndrome

Articles related to Phaver Syndrome:

# Title Authors PMID Year
1
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. 56 61
8279476 1993
2
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII). 61
18935989 2008

Variations for Phaver Syndrome

Expression for Phaver Syndrome

Search GEO for disease gene expression data for Phaver Syndrome.

Pathways for Phaver Syndrome

GO Terms for Phaver Syndrome

Sources for Phaver Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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