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Waardenburg Syndrome Type 2E

Waardenburg syndrome 2E


Presentation

  • Kallmann syndrome and deafness with or without hypopigmentation Waardenburg syndrome type 2E with or without neurologic involvement Waardenburg syndrome type IIE WS2E with or without neurologic involvement Keywords Any medical or genetic information present[uniprot.org]
  • More moderate antibody staining intensity was present in glial cells in the caudate nucleus and hippocampus, glandular cells in the salivary gland and melanocytes in skin.[enquirebio.com]
  • A response was considered present when at least 3 electrodes presented reproducible responses. Electrical Auditory Brainstem Response (EABR) data were recorded by Bio-logic v.7.0 and stimulated by Digistim from Neurelec .[arquivosdeorl.org.br]
  • Features are present from birth. As it is a rare condition and clinical signs can be subtle, diagnosis may not be made until later in life. Four major clinical subtypes of Waardenburg syndrome have been identified.[dermnetnz.org]
  • Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ Página 188 - Dudding, BA, Gorlin, RJ, and Langer, LO: The oto-palato-digital syndrome.[books.google.es]
Disability
  • […] vestibule of the inner ear ; Global developmental delay ; Heterochromia iridis ; Heterogeneous ; Hypertonia ; Hypopigmentation of the fundus ; Hypopigmented skin patches ; Hypoplasia of the iris ; Hypoplasia of the semicircular canal ; Intellectual disability[mousephenotype.org]
  • Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: OMIM MONDO UMLS More info about LISSENCEPHALY 8; LIS8 Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL[mendelian.co]
  • Clinical synopsis disabled successfully. Clinical synopsis enabled successfully. Some error occurred, please try again.[mnglabs.com]
  • […] progressive myoclonic 1B ( PRICKLE1) Epilepsy, progressive myoclonic 2B ( NHLRC1) Epilepsy, progressive myoclonic 3 ( KCTD7) Epilepsy, pyridoxine-dependent ( ALDH7A1) Epilepsy, severe myoclonic, of infancy ( SCN1A) Epilepsy, X-linked, with variable learning disabilities[en.praenatal-medizin.de]
Developmental Delay
  • delay ; Heterochromia iridis ; Heterogeneous ; Hypertonia ; Hypopigmentation of the fundus ; Hypopigmented skin patches ; Hypoplasia of the iris ; Hypoplasia of the semicircular canal ; Intellectual disability ; Muscular hypotonia of the trunk ; Nystagmus[mousephenotype.org]
  • Top matches: Low match MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY Is also known as myopathy[mendelian.co]
  • Lewis type (OMIM:185650) 1 Thumbs stiff with brachydactyly type A1 and developmental delay (OMIM:188201) 1 Waardenburg syndrome type 1 (OMIM:193500) 1 Williams-Beuren syndrome (OMIM:194050) 1 Diarrhea 1 secretory chloride congenital (OMIM:214700) 1 Cystic[academic.oup.com]
  • delay, coarse facies, and early death ( FTO) Guttmacher syndrome ( HOXA13) Gyrate atrophy of choroid and retina with or without ornithinemia ( OAT) Haddad syndrome ( ASCL1) Hailey-Hailey disease ( ATP2C1) Haim-Munk syndrome ( CTSC) Hallermann-Streiff[en.praenatal-medizin.de]
Anosmia
  • Name Waardenburg Syndrome, Type 2E Synonyms HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, WAARDENBURG SYNDROME, TYPE IIE, WS2E, WITH OR[mousephenotype.org]
  • Term Name: Waardenburg syndrome type 2E Search Ontology: Synonyms: hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation Waardenburg syndrome type 2E with or without neurologic involvement Waardenburg syndrome type IIE[zfin.org]
  • Acronym WS2E Synonyms Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation Kallmann syndrome and deafness with or without hypopigmentation Waardenburg syndrome type 2E with or without neurologic involvement Waardenburg[uniprot.org]
  • More on Waardenburg syndrome type 2E » • • • Symptoms of Waardenburg syndrome type 2E Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anosmia White eyebrow Abnormality of the integument Cafe-au-lait spot Hypopigmented[familydiagnosis.com]
  • […] hypogonadism 5 with or without anosmia, 612370 CHD7 Hypogonadotropic hypogonadism 5 with or without anosmia,612370 FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 GNRHR Hypogonadotropic hypogonadism 7 with or without anosmia, 138850[gsdseq.ir]
Hearing Impairment
  • Products Conditions Hearing impairment Waardenburg syndrome PAX3 - Waardenburg syndrome type 1/3 Turnaround time Complete analysis: 8 weeks / Targeted analysis: 4 weeks Performing laboratory Radboudumc SNAI2 - Waardenburg syndrome, type 2D Turnaround[order.radboudumc.nl]
  • impairment ; White eyebrow ; White eyelashes ; White forelock Associated Genes SOX10 (Withdrawn symbols: DOM, WS2E, WS4 ) Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21, gt ) Source OMIM:611584 (names, synonyms, disease associated genes), Orphanet[mousephenotype.org]
  • Affiliated tissues include skin, eye and olfactory bulb, and related phenotypes are premature graying of hair and sensorineural hearing impairment Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin[malacards.org]
  • Three of the male subjects had hearing impairment.[nature.com]
  • impairment Paraplegia Small hand Parkinsonism Psychosis Hearing impairment Abnormality of extrapyramidal motor function Choreoathetosis Clumsiness Spastic gait Drooling Mania Resting tremor Slow progression Pneumonia EEG abnormality High palate Increased[mendelian.co]
Hearing Impairment
  • Products Conditions Hearing impairment Waardenburg syndrome PAX3 - Waardenburg syndrome type 1/3 Turnaround time Complete analysis: 8 weeks / Targeted analysis: 4 weeks Performing laboratory Radboudumc SNAI2 - Waardenburg syndrome, type 2D Turnaround[order.radboudumc.nl]
  • impairment ; White eyebrow ; White eyelashes ; White forelock Associated Genes SOX10 (Withdrawn symbols: DOM, WS2E, WS4 ) Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21, gt ) Source OMIM:611584 (names, synonyms, disease associated genes), Orphanet[mousephenotype.org]
  • Affiliated tissues include skin, eye and olfactory bulb, and related phenotypes are premature graying of hair and sensorineural hearing impairment Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin[malacards.org]
  • Three of the male subjects had hearing impairment.[nature.com]
  • impairment Paraplegia Small hand Parkinsonism Psychosis Hearing impairment Abnormality of extrapyramidal motor function Choreoathetosis Clumsiness Spastic gait Drooling Mania Resting tremor Slow progression Pneumonia EEG abnormality High palate Increased[mendelian.co]
Progressive Hearing Loss
  • Progressive hearing loss has also been reported in some people with WS2. WS2 may be caused by changes (mutations) in any of several genes, but in many cases the genetic cause is unknown.[malacards.org]
Skin Patch
  • patches Premature graying of hair White eyebrow White eyelashes White forelock Abnormality of the musculature ... ...[familydiagnosis.com]
  • patches ; Hypoplasia of the iris ; Hypoplasia of the semicircular canal ; Intellectual disability ; Muscular hypotonia of the trunk ; Nystagmus ; Ocular albinism ; Pectus excavatum ; Phenotypic variability ; Premature graying of hair ; Sensorineural[mousephenotype.org]
  • patches Freckles Cafe-au-lait spots Hair Premature graying White eyelashes White forelock White eyebrows[mnglabs.com]
  • Also characteristic are the white forelock, poliosis, and hypopigmented skin patches.[disorders.eyes.arizona.edu]
  • […] differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes). 0002216 30%-79% of people have these symptoms Heterochromia iridis Different colored eyes 0001100 Hypopigmented skin[rarediseases.info.nih.gov]
Hypopigmented Skin
  • skin patches Premature graying of hair White eyebrow White eyelashes White forelock Abnormality of the musculature ... ...[familydiagnosis.com]
  • skin patches ; Hypoplasia of the iris ; Hypoplasia of the semicircular canal ; Intellectual disability ; Muscular hypotonia of the trunk ; Nystagmus ; Ocular albinism ; Pectus excavatum ; Phenotypic variability ; Premature graying of hair ; Sensorineural[mousephenotype.org]
  • skin patches Freckles Cafe-au-lait spots Hair Premature graying White eyelashes White forelock White eyebrows[mnglabs.com]
  • Also characteristic are the white forelock, poliosis, and hypopigmented skin patches.[disorders.eyes.arizona.edu]
  • WS2 differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes). 0002216 30%-79% of people have these symptoms Heterochromia iridis Different colored eyes 0001100 Hypopigmented[rarediseases.info.nih.gov]
Cafe-Au-Lait Spots
  • More on Waardenburg syndrome type 2E » • • • Symptoms of Waardenburg syndrome type 2E Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anosmia White eyebrow Abnormality of the integument Cafe-au-lait spot Hypopigmented[familydiagnosis.com]
  • WAARDENBURG SYNDROME, TYPE IIE, WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT Classification developmental, genetic, otorhinolaryngological, skin Phenotypes Anosmia ; Aplasia of the semicircular canal ; Autosomal dominant inheritance ; Blue irides ; Cafe-au-lait[mousephenotype.org]
  • […] hypomyelination Delayed psychomotor development A subset of patients have neurologic abnormalities Mental retardation Increased muscle tone Skeletal Skull Bilateral temporal bone abnormalities Skin Nails Hair Skin Hypopigmented skin patches Freckles Cafe-au-lait[mnglabs.com]
White Eyebrows
  • […] skin patches Premature graying of hair White eyebrow White eyelashes White forelock Abnormality of the musculature ... ...[familydiagnosis.com]
  • eyebrow ; White eyelashes ; White forelock Associated Genes SOX10 (Withdrawn symbols: DOM, WS2E, WS4 ) Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21, gt ) Source OMIM:611584 (names, synonyms, disease associated genes), Orphanet (disease classes[mousephenotype.org]
Cafe-Au-Lait Spots
  • More on Waardenburg syndrome type 2E » • • • Symptoms of Waardenburg syndrome type 2E Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anosmia White eyebrow Abnormality of the integument Cafe-au-lait spot Hypopigmented[familydiagnosis.com]
  • WAARDENBURG SYNDROME, TYPE IIE, WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT Classification developmental, genetic, otorhinolaryngological, skin Phenotypes Anosmia ; Aplasia of the semicircular canal ; Autosomal dominant inheritance ; Blue irides ; Cafe-au-lait[mousephenotype.org]
  • […] hypomyelination Delayed psychomotor development A subset of patients have neurologic abnormalities Mental retardation Increased muscle tone Skeletal Skull Bilateral temporal bone abnormalities Skin Nails Hair Skin Hypopigmented skin patches Freckles Cafe-au-lait[mnglabs.com]
Heterochromia Iridis
  • iridis ; Heterogeneous ; Hypertonia ; Hypopigmentation of the fundus ; Hypopigmented skin patches ; Hypoplasia of the iris ; Hypoplasia of the semicircular canal ; Intellectual disability ; Muscular hypotonia of the trunk ; Nystagmus ; Ocular albinism[mousephenotype.org]
  • Sensorineural hearing loss occurs in the majority of people with WS2, and heterochromia iridis (differences in eye coloring) occurs in about half. Progressive hearing loss has also been reported in some people with WS2.[malacards.org]
  • Waanderburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. Pediatr. Dermatol. 2009;26(6):759-61. . Kubic JD, Young KP, Plummer RS, Ludvik AE, Lang D.[revistas.unal.edu.co]
  • WS2 differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes). 0002216 30%-79% of people have these symptoms Heterochromia iridis Different colored eyes 0001100 Hypopigmented[rarediseases.info.nih.gov]
Bright Blue Eyes
  • blue eyes Nystagmus Hypopigmented irides Hypoplastic irides Ocular albinism (reported in 1 patient) Retinal hypopigmentation Nose Anosmia (in some patients) Absence of the olfactory bulbs (reported in 1 patient) Inheritance - Autosomal dominant Miscellaneous[mnglabs.com]
Withdrawn
  • […] symbols: DOM, WS2E, WS4 ) Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21, gt ) Source OMIM:611584 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse[mousephenotype.org]
Ataxia
  • Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.[malacards.org]
  • Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (602229), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia.[ncbi.nlm.nih.gov]
  • Laron syndrome with immunodeficiency Acute myeloid leukemia with t(8;21)(q22;q22) translocation Chronic myeloid leukemia Familial platelet syndrome with predisposition to acute myelogenous leukemia Isolated delta-storage pool disease Spinocerebellar ataxia[csbg.cnb.csic.es]
  • The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016 ).[mendelian.co]
Nystagmus
  • […] developmental delay ; Heterochromia iridis ; Heterogeneous ; Hypertonia ; Hypopigmentation of the fundus ; Hypopigmented skin patches ; Hypoplasia of the iris ; Hypoplasia of the semicircular canal ; Intellectual disability ; Muscular hypotonia of the trunk ; Nystagmus[mousephenotype.org]
  • Small cochlea Vestibular malformation Dilatation of the vestibule Teeth Delayed deciduous tooth eruption (reported in 1 patient) Irregularly placed dentition (reported in 1 patient) Large central incisors (reported in 1 patient) Eyes Bright blue eyes Nystagmus[mnglabs.com]
  • […] mitochondrial complex deficiency, combined;congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome Related symptoms: Autosomal recessive inheritance Global developmental delay Generalized hypotonia Hearing impairment Nystagmus[mendelian.co]
  • Families with WS2A may have the full spectrum of eye findings seen in X-linked ocular albinism I ( 300500 ) including decreased acuity, photophobia, nystagmus, translucent irides, hypermetropia, and albinotic fundi with foveal hypoplasia.[disorders.eyes.arizona.edu]
  • 1, congenital, X-linked ( FRMD7) Nystagmus 6, congenital, X-linked ( GPR143) Obesity with impaired prohormone processing ( PCSK1) Obesity, adrenal insufficiency, and red hair due to POMC deficiency ( POMC) Obesity, autosomal dominant ( MC4R) Obesity,[en.praenatal-medizin.de]
Cerebellar Ataxia
  • GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Global developmental delay Generalized hypotonia Pica SOURCES: OMIM[mendelian.co]
  • ataxia ( CP) Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 ( CA8) Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 ( VLDLR) Cerebral amyloid angiopathy ( CST3) Cerebral amyloid[en.praenatal-medizin.de]
  • ataxia ホームズ型小脳失調症 Holter ホルター Holter electrocardiograph ホルター心電計 Holt-Oram ホルト・オーラム Holt-Oram syndrome ホルト・オーラム症候群 Holtzman ホルツマン Holtzman inkblot test ホルツマン・インクしみテスト Holzknecht ホルツクネヒト Holzknecht space ホルツクネヒト腔 Horner ホルネル Horner-Spalding sign ホルネル・スパルディング[jams.med.or.jp]

Treatment

  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.de]
  • Treatment may include the use of hearing aids and/or cosmetic products or treatments (if desired) for skin hypopigmentation.[malacards.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Treatment Treatment Options: No ocular treatment is necessary but assistive hearing devices can be helpful.[disorders.eyes.arizona.edu]
  • Standard Therapies Treatment The treatment of WS is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]

Prognosis

  • INTRODUCTION Cochlear implantation outcomes are dependent on several factors that lead to a good prognosis, such as early diagnosis and intervention, systematic rehabilitation, family permeability, and type of communication, as well as other factors related[arquivosdeorl.org.br]

Etiology

  • SOX10 is the second neural crest-related gene implicated in the etiology of KS.[nature.com]
  • […] outcomes are dependent on several factors that lead to a good prognosis, such as early diagnosis and intervention, systematic rehabilitation, family permeability, and type of communication, as well as other factors related to hearing loss including etiology[arquivosdeorl.org.br]
  • Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome. Am J Hum Genet. 2003;72(2):465-70.[malattierare.regione.veneto.it]

Epidemiology

  • […] microcephaly Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Pathophysiology

  • In The Pigmentary System: Physiology and Pathophysiology, 2nd Ed.(2006年)" 論文 Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics.[myu.ac.jp]

Prevention

  • These may include the use of specially tinted glasses or contact lenses (e.g., to help reduce possible sensitivity to light), measures to help prevent or treat infection, or other preventive or therapeutic steps.[rarediseases.org]

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