The four subtypes are defined by the genetic locus involved in the clinical presentation. [accesspediatrics.mhmedical.com]

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]

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. [dermnetnz.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]

• Developmental Disorder

  カテゴリ 先天性代謝異常; 白皮症 階層分類 ヒト疾患 [BR: jp08402 ] 先天性代謝異常症 その他の先天性代謝異常症 H00759 ワールデンブルグ症候群 ICD-11 による疾患分類 [BR: jp08403 ] 14 Diseases of the skin Genetic and developmental disorders affecting the skin Genetic syndromes affecting the skin EC23 Genetic disorders [genome.jp]

  Mutations in SOX10 are known to cause Waardenburg syndrome (WS), which is a rare developmental disorder characterized by pigmentation abnormalities and deafness (specifically type 4C, which combines Waardenburg and Hirschsprung disease MIM# 613266; its [nature.com]

  […] development disorder, unspecified Synonyme : Autistic disorder, childhood autism, pervasive developmental disorder (not otherwise specified), atypical autism, Asperger syndrome, high-functioning autism Beals Syndrom ( 2 Files ) Name der Erkrankung: Beals [orphananesthesia.eu]

• Anosmia

  […] 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]

  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]

• Hearing Impairment

  impairment Ataxia Nystagmus Sensorineural hearing impairment Cognitive impairment Visual impairment Wide nasal bridge And another 35 symptoms. [mendelian.co]

  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]

  Three of the male subjects had hearing impairment. [nature.com]

  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]

• Hearing Problem

  Hearing should be checked closely. Outlook (Prognosis) Once hearing problems are addressed, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications. [mountsinai.org]

• Heterochromia Iridis

  Major criteria Sensorineural deafness Iris pigmentary abnormality, such as heterochromia iridis – complete, partial, or segmental; isohypochromia iridis; or fundus pigmentary abnormalities Abnormalities of hair pigmentation, such as white forelock, eyebrows [dermnetnz.org]

  [from OMIM] Show allHide all Abnormality of the cardiovascular system Vascular dilatation Abnormality of the eye Blue irides Heterochromia iridis Hypopigmentation of the fundus Hypoplasia of the iris Iris hypopigmentation Nystagmus Ocular albinism Abnormality [ncbi.nlm.nih.gov]

  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]

• Blue Eyes

  However, all types present with very pale or brilliantly blue eyes, iris heterochromia, or iris sectoral (two different colors within the same eye) (sectoral heterochromia). [accesspediatrics.mhmedical.com]

  Bright 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 [mnglabs.com]

  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. [ghr.nlm.nih.gov]

  Symptoms Symptoms may include: Cleft lip (rare) Constipation Deafness (more common in type II disease) Extremely pale blue eyes or eye colors that don't match (heterochromia) Pale color skin, hair, and eyes (partial albinism) Difficulty completely straightening [mountsinai.org]

• Bright Blue Eyes

  Bright 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 [mnglabs.com]

• Hypopigmented Skin

  skin patches Premature graying of hair White eyebrow White eyelashes White forelock Abnormality of the musculature ... ... [familydiagnosis.com]

  […] the cardiovascular system Vascular dilatation Abnormality of the eye Blue irides Heterochromia iridis Hypopigmentation of the fundus Hypoplasia of the iris Iris hypopigmentation Nystagmus Ocular albinism Abnormality of the integument Cafe-au-lait spot Hypopigmented [ncbi.nlm.nih.gov]

  Autosomal dominant inheritance ; Blue irides ; Cafe-au-lait spot ; Cerebral hypomyelination ; Dilatation ; Dilated vestibule of the inner ear ; Global developmental delay ; Heterochromia iridis ; Heterogeneous ; Hypertonia ; Hypopigmentation of the fundus ; Hypopigmented [mousephenotype.org]

  Nails Hair Skin Hypopigmented 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]

• 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 Abnormality of the musculoskeletal system Axial hypotonia Hypertonia Pectus excavatum Abnormality of the nervous system Anosmia Cerebral hypomyelination Global developmental delay Intellectual disability Ear malformation [ncbi.nlm.nih.gov]

  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]

  […] eyelashes White forelock White eyebrows [mnglabs.com]

  eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased [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]

  Abnormality of the cardiovascular system Vascular dilatation Abnormality of the eye Blue irides Heterochromia iridis Hypopigmentation of the fundus Hypoplasia of the iris Iris hypopigmentation Nystagmus Ocular albinism Abnormality of the integument Cafe-au-lait [ncbi.nlm.nih.gov]

  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]

• Freckles

  […] patients) Brain 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 [mnglabs.com]

• Premature Graying of the Hair

  Also, the presence of peliosis (white forelock) or premature graying of the hair is the characteristic of the disease. [accesspediatrics.mhmedical.com]

• Broad Nasal Bridge

  Broad nasal bridge, or widening of the base of the nose, is a relative term. It can be a normal facial feature, but it can also be associated with certain congenital disorders such as basal cell nevus syndrome, or trisomy 8, a chromosome defect. [mountsinai.org]

  bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 Showing of 21 | Last updated: 5 [rarediseases.info.nih.gov]

  He had broad nasal bridge, but no synophrys or hypoplasia alae nasi. [nature.com]

• Global Developmental Delay

  […] with cataract and combined respiratory chain deficiency, mitochondrial complex deficiency, combined;congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome Related symptoms: Autosomal recessive inheritance Global developmental [mendelian.co]

  developmental delay Intellectual disability Ear malformation Aplasia of the semicircular canal Dilated vestibule of the inner ear Hypoplasia of the semicircular canal Morphological abnormality of the vestibule of the inner ear Sensorineural hearing loss [ncbi.nlm.nih.gov]

  genetic, otorhinolaryngological, skin Phenotypes Anosmia ; Aplasia of the semicircular canal ; Autosomal dominant inheritance ; Blue irides ; Cafe-au-lait spot ; Cerebral hypomyelination ; Dilatation ; Dilated vestibule of the inner ear ; Global developmental [mousephenotype.org]

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]

Legend How to query Individual ID ID_report Reference Remarks Gender Consanguinity Country Population Age at death VIP Data_av Treatment Disease Phenotype details Genes screened Variants in genes Variants Panel size Owner 00381527 - PubMed: Batissoco [databases.lovd.nl]

Outlook (Prognosis) Once hearing problems are addressed, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications. [mountsinai.org]

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]

However, only about 30% of the etiology and pathogenesis can be explained by the reported genetic mutations currently and about 70% remains unknown. [frontiersin.org]

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]

[…] 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]

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]

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]