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)
10
(31.0%)		 11152153
 Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome.
McGaughran J.
Clin Dysmorphol. 2001;10(1):67-8.
White forelock Preaxial polydactyly
Branchio-Oto-Renal Syndrome Homo sapiens India Infant Male New Zealand Piebaldism Polydactyly Skin Abnormalities
10
(31.0%)		 7573150
 Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.
Sayli BS, Akarsu AN, Altan S.
Am J Med Genet. 1995;58(1):18-20.
Anophthalmia Syndactyly
Child Differential Diagnosis Fingers Homo sapiens Male Toes Waardenburg Syndrome
10
(31.0%)		 6322092
 Waardenburg syndrome with associated multiple anomalies.
Zelig S, Deutsch E, Eilon A.
ORL J Otorhinolaryngol Relat Spec. 1984;46(1):34-7.
Syndactyly
Child, Preschool Dacryocystitis Females Homo sapiens Syndactyly Waardenburg Syndrome
14
(30.8%)		 30314436
(6186106)
 A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
Choi EY, Choi W, Lee CS.
BMC Ophthalmol. 2018;18(1):266.
Telecanthus
PAX3
Adult DNA DNA Mutational Analysis Fluorescein Angiography Homo sapiens Male Mutation PAX3 Transcription Factor Retinal Artery Occlusion Retinal Vein Occlusion South Korea Tomography, Optical Coherence Visual Acuity Waardenburg Syndrome
14
(30.8%)		 26114849
(4532278)
 Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.
Choudhry N, Rao RC.
Ophthalmic Surg Lasers Imaging Retina. 2015;46(6):670-3.
Telecanthus
Choroid Diseases Craniofacial Abnormalities Females Fluorescein Angiography Homo sapiens Iris Diseases Middle Aged Multimodal Imaging Pigmentation Disorders Tomography, Optical Coherence Waardenburg Syndrome
14
(30.8%)		 23471332
 [Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].
Nasser LS, Paranaiba LM, Frota AC, Gomes A, Versiani G, Martelli Junior H.
Arq Bras Oftalmol. 2012;75(5):352-5.
Telecanthus
Adult Child, Preschool Eye Diseases, Hereditary Females Genetic Predisposition to Disease Homo sapiens Male Middle Aged Visual Acuity Waardenburg Syndrome
14
(30.8%)		 7098370
 [Waardenburg syndrome type I--autosomal dominant hereditary combination of multiple facial anomalies with cochlear deafness (author's transl)].
Meinecke P.
Klin Padiatr. 1982;194(2):112-6.
Telecanthus
Child Child, Preschool Deafness Females Hair Color Homo sapiens Male Waardenburg Syndrome
18
(29.4%)		 23121842
 Waardenburg syndrome--a case report.
Bansal Y, Jain P, Goyal G, Singh M, Mishra C.
Cont Lens Anterior Eye. 2013;36(1):49-51.
Synophrys
Child Cornea Differential Diagnosis Females Genetic Predisposition to Disease Homo sapiens Waardenburg Syndrome
18
(29.4%)		 18348267
 A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.
Sznajer Y, Coldea C, Meire F, Delpierre I, Sekhara T, Touraine RL.
Am J Med Genet A. 2008;146A(8):1038-41.
Synophrys
SOX10
c|SUB|A|698-2|C;RS#:397515370 rs397515370
Child, Preschool DNA-Binding Proteins Genotype High Mobility Group Proteins Hirschsprung Disease Homo sapiens Male Mutation Phenotype SOXE Transcription Factors Sequence Analysis, DNA Severity of Illness Index Waardenburg Syndrome
18
(29.4%)		 16156914
 Cochlear implantation in children with Waardenburg syndrome.
Daneshi A, Hassanzadeh S, Farhadi M.
J Laryngol Otol. 2005;119(9):719-23.
Synophrys
Child Child, Preschool Cochlear Implants Females Homo sapiens Male Retrospective Studies Speech Discrimination Tests Speech Perception 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