Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.



Input patient's signs and symptoms


Narrow down the case reports



Total: 97 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(62.1%)		 25928000
(4432946)
 EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
Li C, Chen R, Fan X, Luo J, Qian J, Wang J, Xie B, Shen Y, Chen S.
BMC Med Genet. 2015;16:23.
Micrognathia Synophrys
EPHA4 IGF1 PAX3
Animals Body Height Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 Haploinsufficiency Homo sapiens Human Growth Hormone Male Mus Receptor, EphA4 Waardenburg Syndrome
2
(51.2%)		 14556253
 Craniofacial-deafness-hand syndrome revisited.
Sommer A, Bartholomew DW.
Am J Med Genet A. 2003;123A(1):91-4.
Depressed nasal bridge Ulnar deviation of the hand
PAX3
p|SUB|N|47|K;RS#:104893652
Adult Child Child, Preschool Craniofacial Abnormalities DNA-Binding Proteins Deafness Females Follow-Up Studies Homo sapiens Infant Male Missense Mutation PAX3 Transcription Factor Paired Box Transcription Factors Syndrome
3
(46.5%)		 8103404
 Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.
Pasteris NG, Trask BJ, Sheldon S, Gorski JL.
Hum Mol Genet. 1993;2(7):953-9.
Microcephaly Lip pit
ALPI CHRND COL4A3 INHA PAX3
Bone and Bones Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 Cleft Palate Females Fluorescent in Situ Hybridization Genes, Dominant Genes, Homeobox Genetic Markers Homo sapiens Intellectual Disability Male Microcephaly Phenotype Waardenburg Syndrome
4
(43.6%)		 19188806
 Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
Wu HT, Wainwright H, Beighton P.
Clin Dysmorphol. 2009;18(2):112-5.
Tetraphocomelia
Autopsy Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Pregnancy Ultrasonography, Prenatal Waardenburg Syndrome
5
(43.1%)		 10661905
 Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.
Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A.
Teratology. 2000;61(3):165-71.
Telecanthus Scoliosis
c|SUB|A|1555|G
Aminoglycosides Child DNA, Mitochondrial Deafness Females Homo sapiens Male Meningomyelocele Mutation Pigmentation Disorders Ribosomal RNA Spina Bifida
6
(41.7%)		 10631920
 A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.
Stoll C, Terzic J, Fischbach M.
Genet Couns. 1999;10(4):337-43.
Mask-like facies Telecanthus Joint laxity
Craniofacial Abnormalities Eye Abnormalities Females Homo sapiens Infant Intellectual Disability Male Nose Syndrome Waardenburg Syndrome
7
(39.0%)		 12365727
 Shah-Waardenburg syndrome and Dandy-Walker malformation: an autopsy report.
Yoder BJ, Prayson RA.
Clin Neuropathol. 2002;21(5):236-40.
Dandy-Walker malformation
Autopsy Child, Preschool Dandy-Walker Syndrome Homo sapiens Male Waardenburg Syndrome
8
(36.8%)		 27659091
 Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.
Marta SN, Kawakami RY, Sgavioli CA, Correa AE, D'Ark de Oliveira El Kadre G, Carvalho RS.
J Contemp Dent Pract. 2016;17(8):702-5.
Hypodontia Scarring
Homo sapiens Male Self-Injurious Behavior Waardenburg Syndrome Young Adult
9
(36.6%)		 22766441
 [A case report on Waardenburg syndrome with cleft lip].
Traore H, Traore D, Ouane O, Simpara B, Ongoiba N.
Mali Med. 2011;26(3):53-5.
Telecanthus Cleft lip
Females Homo sapiens Infant Waardenburg Syndrome
10
(31.0%)		 27966732
 A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.
Wang D, Ren GF, Zhang HZ, Yi CY, Peng ZJ.
Genet Mol Res. 2016;15(4):.
Syndactyly
Asians Child Chromosome Deletion Chromosomes, Human, Pair 2 Congenital Heart Defects Fingers Hedgehog Proteins Homo sapiens Male Syndactyly Waardenburg Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000504 Abnormality of vision Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0001000 Abnormality of skin pigmentation Very frequent (99-80%)
HP:0001053 Hypopigmented skin patches Very frequent (99-80%)
HP:0001100 Heterochromia iridis Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002216 Premature graying of hair Very frequent (99-80%)
HP:0005599 Hypopigmentation of hair Very frequent (99-80%)
HP:0000153 Abnormality of the mouth Frequent (79-30%)
HP:0000159 Abnormal lip morphology Frequent (79-30%)
HP:0000271 Abnormality of the face Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000478 Abnormality of the eye Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0000534 Abnormal eyebrow morphology Frequent (79-30%)
HP:0000632 Lacrimation abnormality Frequent (79-30%)
HP:0002211 White forelock Frequent (79-30%)
HP:0000130 Abnormality of the uterus Occasional (29-5%)
HP:0000142 Abnormal vagina morphology Occasional (29-5%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0002251 Aganglionic megacolon Occasional (29-5%)
HP:0002475 Myelomeningocele Occasional (29-5%)
HP:0005214 Intestinal obstruction Occasional (29-5%)
HP:0011024 Abnormality of the gastrointestinal tract Occasional (29-5%)
HP:0100811 Aplasia/Hypoplasia of the colon Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 48

HPO ID Term # of case reports
HP:0000528 Anophthalmia 3
HP:0001045 Vitiligo 3
HP:0001100 Heterochromia iridis 3
HP:0000506 Telecanthus 2
HP:0000568 Microphthalmia 2
HP:0001022 Albinism 2
HP:0001159 Syndactyly 2
HP:0009830 Peripheral neuropathy 2
HP:0000126 Hydronephrosis 1
HP:0000365 Hearing impairment 1
HP:0000488 Retinopathy 1
HP:0000508 Ptosis 1
HP:0000546 Retinal degeneration 1
HP:0000555 Leukocoria 1
HP:0000577 Exotropia 1
HP:0000635 Blue irides 1
HP:0000646 Amblyopia 1
HP:0000664 Synophrys 1
HP:0000822 Hypertension 1
HP:0000951 Abnormality of the skin 1
HP:0001271 Polyneuropathy 1
HP:0001288 Gait disturbance 1
HP:0001305 Dandy-Walker malformation 1
HP:0001332 Dystonia 1
HP:0001601 Laryngomalacia 1
HP:0002019 Constipation 1
HP:0002023 Anal atresia 1
HP:0002211 White forelock 1
HP:0002216 Premature graying of hair 1
HP:0002290 Poliosis 1
HP:0002414 Spina bifida 1
HP:0002444 Hypothalamic hamartoma 1
HP:0002861 Melanoma 1
HP:0004322 Short stature 1
HP:0005214 Intestinal obstruction 1
HP:0007033 Cerebellar dysplasia 1
HP:0007110 Central hypoventilation 1
HP:0007443 Partial albinism 1
HP:0007730 Iris hypopigmentation 1
HP:0007894 Hypopigmentation of the fundus 1
HP:0009916 Anisocoria 1
HP:0011286 Total colonic aganglionosis 1
HP:0012165 Oligodactyly 1
HP:0012245 Sex reversal 1
HP:0012450 Chronic constipation 1
HP:0012636 Retinal vein occlusion 1
HP:0030721 Tetraphocomelia 1
HP:0410030 Cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID