A number sign (#) is used with this entry because Waardenburg syndrome type 1 (WS1) is caused by heterozygous mutation in the PAX3 gene () on. A number sign (#) is used with this entry because Waardenburg syndrome type 4A (WS4A) is caused by heterozygous or homozygous mutation in the. Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease.

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Waardenburg syndrome

Additional information Further information on this disease Classification s 6 Gene s 1 Disability Clinical signs and symptoms Other website s 1. One patient carried a slightly larger deletion of chromosome 13q Pathogenic variants within PAX3 or deletion of the entire gene result in haploinsufficiency.

Genes and Databases for chromosome locus and protein.

In a report from a consortium, Grundfast et al. In addition, PAX3 contains a homeobox [ Birrane et al ]. Please consider making a donation now and again in the future.

Family planning The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy. GAMT deficiency Glycine encephalopathy. InfancyNeonatal ICD Combining the phenotypic features of heterozygous mutants and considering that molecular defects ranging from single point mutations to large deletions cause similar phenotypes, they excluded the possibility that the mutated allele in heterozygotes interferes with the function of the wildtype allele.


Etiology WSS is caused by abnormal migration or differentiation of neural crest cells during embryonic development. Only comments written in English can be processed. Antenatal diagnosis Molecular prenatal diagnosis may be proposed to families in which the disease-causing mutation has been identified.

She had colonic aganglionosis, bilateral sensorineural hearing loss, and pigmentary anomalies, including achromic patches of the skin, white eyelashes, pale blue retina, but absence of dystopia canthorum found in Waardenburg syndrome type 1 PCWH occurs in the neonatal and infancy period, and includes features of WSS sensorineural hearing loss, iris heterochromia, skin hypopigmentation associated with Hirschsprung disease and neurological features neonatal hypotonia, intellectual disability of variable severity, nystagmus, progressive spasticity, ataxia and epilepsy.


The mother had features of Waardenburg syndrome. In marked cases there may be cosmetic issues. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Ann Otol Rhinol Laryngol. Major criteria Congenital sensorineural hearing loss. Differential diagnosis The differential diagnosis includes other forms of Waardenburg syndrome, piebaldism and ermine phenotype, enfermedzd well as other causes of hearing loss or Wnfermedad disease.

Badner and Chakravarti concluded, however, that a single dominant gene with pleiotropic effects, with a more severe phenotype in homozygotes, was more plausible. McKusick ; Lowryand Omenn and McKusick noted the frequent occurrence of Hirschsprung disease aganglionic megacolon; in patients with Waardenburg syndrome.

Waardenburg’s waardenburh during the first year of life. Waardenburg syndrome does not affect people’s snfermedad abilities. Prenatal diagnosis is possible by fetal DNA mutation analysis if a causal mutation is identified in a member of the family either in case of an affected parent a rare situation or due to the risk of germline mosaicism. The name is spelled de Chadarevian in at least 4 other publications cited in Mendelian Inheritance in Man.


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Expert curators review the literature and organize it to facilitate your work. MedGen Related information in MedGen. Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease PCWH is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome WSS with neurological features of variable severity.

Mandrake features several characters with Waardenburg Syndrome. Heterochromia irides and sensorineural deafness are rarely described.

Tests in GTR by Gene. The novel Shock by Robin Cook mentions a character with the disorder.

Waardenburg syndrome type III WS3 Klein-Waardenburg syndromecharacterized by a combination of typical WS1 features and hypoplasia or contractures of the limb muscles or joints, carpal bone fusion, or syndactyly [ Hoth et al saardenburg. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. Birrane et al [] further demonstrated that certain PAX3 pathogenic missense variants could destabilize the folding of the Enfrrmedad homeodomain, whereas others affect its interaction with DNA.