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Waardenburg syndrome type 2E(WS2E)

MedGen UID:
398476
Concept ID:
C2700405
Disease or Syndrome
Synonyms: HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION; Waardenburg Syndrome Type IIE; WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; WS2E; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT
 
Gene (location): SOX10 (22q13.1)
 
Monarch Initiative: MONDO:0012698
OMIM®: 611584

Definition

Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580). [from OMIM]

Additional description

From MedlinePlus Genetics
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.  https://medlineplus.gov/genetics/condition/waardenburg-syndrome

Clinical features

From HPO
Vascular dilatation
MedGen UID:
8076
Concept ID:
C0002940
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hypoplasia of the semicircular canal
MedGen UID:
765070
Concept ID:
C3552156
Finding
Underdevelopment of the semicircular canal.
Aplasia of the semicircular canal
MedGen UID:
868971
Concept ID:
C4023385
Anatomical Abnormality
Absence of the semicircular canal.
Dilated vestibule of the inner ear
MedGen UID:
868973
Concept ID:
C4023387
Anatomical Abnormality
Dilatation of the vestibule of the inner ear.
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebral hypomyelination
MedGen UID:
383084
Concept ID:
C2677328
Finding
Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Finding
Development of gray hair at a younger than normal age.
White forelock
MedGen UID:
91023
Concept ID:
C0344312
Finding
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
White eyelashes
MedGen UID:
332275
Concept ID:
C1836736
Finding
White color (lack of pigmentation) of the eyelashes.
White eyebrow
MedGen UID:
373165
Concept ID:
C1836737
Finding
White color (lack of pigmentation) of the eyebrow.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Ocular albinism
MedGen UID:
38147
Concept ID:
C0078917
Congenital Abnormality
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Hypopigmentation of the fundus
MedGen UID:
101805
Concept ID:
C0151891
Disease or Syndrome
Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
Iris hypopigmentation
MedGen UID:
509721
Concept ID:
C0154920
Finding
An abnormal reduction in the amount of pigmentation of the iris.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Heterochromia iridis
MedGen UID:
98395
Concept ID:
C0423318
Finding
Heterochromia iridis is a difference in the color of the iris in the two eyes.
Blue irides
MedGen UID:
108297
Concept ID:
C0578626
Finding
A markedly blue coloration of the iris.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Sun L, Li X, Shi J, Pang X, Hu Y, Wang X, Wu H, Yang T
Sci Rep 2016 Oct 19;6:35498. doi: 10.1038/srep35498. PMID: 27759048Free PMC Article
Chen K, Zong L, Zhan Y, Wu X, Liu M, Jiang H
Int J Pediatr Otorhinolaryngol 2015 May;79(5):745-8. Epub 2015 Mar 17 doi: 10.1016/j.ijporl.2015.03.006. PMID: 25817900

Recent clinical studies

Etiology

Pingault V, Zerad L, Bertani-Torres W, Bondurand N
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Alehabib E, Alinaghi S, Pourfatemi F, Darvish H
Int J Pediatr Otorhinolaryngol 2020 Aug;135:110014. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110014. PMID: 32422366
Chen K, Zong L, Zhan Y, Wu X, Liu M, Jiang H
Int J Pediatr Otorhinolaryngol 2015 May;79(5):745-8. Epub 2015 Mar 17 doi: 10.1016/j.ijporl.2015.03.006. PMID: 25817900
Chen K, Zong L, Liu M, Zhan Y, Wu X, Zou W, Jiang H
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):926-9. Epub 2014 Mar 27 doi: 10.1016/j.ijporl.2014.03.014. PMID: 24735604
Elmaleh-Bergès M, Baumann C, Noël-Pétroff N, Sekkal A, Couloigner V, Devriendt K, Wilson M, Marlin S, Sebag G, Pingault V
AJNR Am J Neuroradiol 2013 Jun-Jul;34(6):1257-63. Epub 2012 Dec 13 doi: 10.3174/ajnr.A3367. PMID: 23237859Free PMC Article

Diagnosis

Wang SQ, Chen Y, Luo KH, Shi NJ, Xiao KL, Cui ZH, Zeng TS, Li HQ
Yi Chuan 2022 Dec 20;44(12):1158-1166. doi: 10.16288/j.yczz.22-161. PMID: 36927561
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Sil A, Panigrahi A
J Cutan Med Surg 2020 May/Jun;24(3):305. doi: 10.1177/1203475420902048. PMID: 32421428
Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, Deggouj N, Loundon N, Jonard L, David A, Sznajer Y, Blanchet P, Marlin S, Pingault V
Hum Mutat 2017 May;38(5):581-593. Epub 2017 Mar 15 doi: 10.1002/humu.23206. PMID: 28236341
Chen Y, Yang F, Zheng H, Zhou J, Zhu G, Hu P, Wu W
Mol Med Rep 2016 Mar;13(3):1983-8. Epub 2016 Jan 13 doi: 10.3892/mmr.2016.4774. PMID: 26781036Free PMC Article

Therapy

Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A
Am J Med Genet A 2018 Sep;176(9):1968-1971. Epub 2018 Aug 16 doi: 10.1002/ajmg.a.40362. PMID: 30113773

Prognosis

Nasirshalal M, Panahi M, Javanshir N, Salmani H
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Şuhani RD, Şuhani MF, Muntean A, Mesaroş MF, Badea ME
Rom J Morphol Embryol 2015;56(2 Suppl):879-83. PMID: 26429191
Chen K, Zong L, Zhan Y, Wu X, Liu M, Jiang H
Int J Pediatr Otorhinolaryngol 2015 May;79(5):745-8. Epub 2015 Mar 17 doi: 10.1016/j.ijporl.2015.03.006. PMID: 25817900

Clinical prediction guides

Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Wang J, Lu Y, Yan X, Shen T, Li L, Rao Y, Tan B, Xiong W, Cheng J, Zhao Y, Yuan H
Mol Genet Genomic Med 2021 Sep;9(9):e1770. Epub 2021 Jul 29 doi: 10.1002/mgg3.1770. PMID: 34323021Free PMC Article
Ren S, Chen X, Kong X, Chen Y, Wu Q, Jiao Z, Shi H
Mol Genet Genomic Med 2020 Mar;8(3):e1128. Epub 2020 Jan 20 doi: 10.1002/mgg3.1128. PMID: 31960627Free PMC Article
Yang S, Dai P, Liu X, Kang D, Zhang X, Yang W, Zhou C, Yang S, Yuan H
PLoS One 2013;8(10):e77149. Epub 2013 Oct 23 doi: 10.1371/journal.pone.0077149. PMID: 24194866Free PMC Article
Tachibana M
Pigment Cell Res 1997 Feb-Apr;10(1-2):25-33. doi: 10.1111/j.1600-0749.1997.tb00462.x. PMID: 9170159

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