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Waardenburg syndrome

Waardenburg syndrome
Synonyms Waardenburg Shah syndrome, Waardenburg-Klein syndrome
Patient with Waardenburg-Klein syndrome (1916).jpg
Facial features of Waardenburg syndrome
Classification and external resources
Specialty medical genetics
ICD-10 E70.3 (ILDS E70.32)
ICD-9-CM 270.2
DiseasesDB 14021 33475
MedlinePlus 001428
eMedicine ped/2422 derm/690
MeSH D014849

Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation changes.

It was first described in 1951.

Symptoms vary from one type of the syndrome to another and from one patient to another, but they include:

Waardenburg syndrome has also been associated with a variety of other congenital disorders, such as intestinal and spinal defects, elevation of the scapula and cleft lip and palate. Sometimes this is concurrent with Hirschsprung disease.

This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.

Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

Waardenburg syndrome is usually inherited in an autosomal dominant pattern.

Types II and IV Waardenburg syndrome may sometimes have an autosomal recessive pattern of inheritance.

Types I and III inheritance of this trait is autosomal dominant. If an affected parent is homozygous dominant there is a 100% that the child will be affected and if the affected parent is heterozygous dominant then there is a 50% chance that a child of an affected parent will be affected. Symptoms vary and so the extremity of symptoms cannot be determined. Types II and IV is autosomal recessive, symptoms are not definite they vary just as the other type’s symptoms will. A study was done on a rare case of a double heterozygous child with each parent having only single mutations in MTIF or PAX3. The effect of double heterozygous mutations in the genes MTIF and PAX3 in WS1 and WS2 can increase the pigment-affected symptoms. It leads to the conclusion that the double mutation of MTIF is associated with the extremity of Waardenburg Syndrome and may affect the phenotypes or symptoms of the syndrome



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