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)
28 (4.0%)	3712396	Possible Waardenburg syndrome with gastrointestinal anomalies. Nutman J, Steinherz R, Sivan Y, Goodman RM. J Med Genet. 1986;23(2):175-8. [ Show abstract ] [ Hide abstract ]
		Anal atresia


		Anus, Imperforate Esophageal Atresia Females Homo sapiens Infant Tracheoesophageal Fistula Waardenburg Syndrome
28 (4.0%)	3631139	Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. Meire F, Standaert L, De Laey JJ, Zeng LH. Am J Med Genet. 1987;27(3):683-6. [ Show abstract ] [ Hide abstract ]
		Ptosis


		Blepharoptosis Females Hirschsprung Disease Homo sapiens Neural Crest Waardenburg Syndrome
28 (4.0%)	3438055	Waardenburg syndrome: a variant with neurological involvement. Kawabata E, Ohba N, Nakamura A, Izumo S, Osame M. Ophthalmic Paediatr Genet. 1987;8(3):165-70. [ Show abstract ] [ Hide abstract ]
		Gait disturbance


		Child Gait Homo sapiens Intellectual Disability Iris Diseases Male Movement Disorders Waardenburg Syndrome
28 (4.0%)	3228147	Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome. Kaplan P, de Chaderevian JP. Am J Med Genet. 1988;31(3):679-88. [ Show abstract ] [ Hide abstract ]
		Ptosis
		FN1 TNC

		Eye Color Hirschsprung Disease Homo sapiens Infant Male Neural Crest Pigmentation Disorders Waardenburg Syndrome
28 (4.0%)	2316963	[Waardenburg syndrome. Report of a familial case]. Khaldi F, Serbegi M, Mokadem H, Lazzem B, Bennaceur B. Ann Pediatr (Paris). 1990;37(1):55-8. [ Show abstract ] [ Hide abstract ]
		White forelock


		Adult Child, Preschool Females Homo sapiens Homozygote Infant, Newborn Male Waardenburg Syndrome
28 (4.0%)	1436991	Waardenburg syndrome in Japanese patients. Case reports and literature review. Hayasaka S, Noda S, Setogawa T, Kobayashi A, Kishida K, Sakai T. Ophthalmologica. 1992;205(1):46-51. [ Show abstract ] [ Hide abstract ]
		Blue irides


		Adult Albinism, Ocular Child, Preschool Deafness Eye Color Females Homo sapiens Incidence Infant Japan Male Waardenburg Syndrome
28 (4.0%)	576593	A second conponent of atropine mydriasis. Korczyn AD, Laor N. Invest Ophthalmol Vis Sci. 1977;16(3):231-2. [ Show abstract ] [ Hide abstract ]
		Mydriasis


		Homo sapiens Male Mydriatics Pupil Sympathetic Nervous System Tropanes 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