PHAVER syndrome

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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 8279476
 PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
Powell CM, Chandra RS, Saal HM.
Am J Med Genet. 1993;47(6):807-11.
Pterygium
Adult Congenital Heart Defects Females Fetus Genes, Recessive Homo sapiens Infant, Newborn Male Pregnancy Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0001059 Pterygium Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003316 Butterfly vertebrae Very frequent (99-80%)
HP:0009465 Ulnar deviation of finger Very frequent (99-80%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000396 Overfolded helix Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001199 Triphalangeal thumb Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001680 Coarctation of aorta Frequent (79-30%)
HP:0002475 Myelomeningocele Frequent (79-30%)
HP:0002974 Radioulnar synostosis Frequent (79-30%)
HP:0004935 Pulmonary artery atresia Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0009778 Short thumb Frequent (79-30%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Frequent (79-30%)
HP:0010059 Broad hallux phalanx Frequent (79-30%)
HP:0011304 Broad thumb Frequent (79-30%)
HP:0012304 Hypoplastic aortic arch Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001059 Pterygium 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID