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Pietrus sp? Waardenburg discovered Waardenburg syndrome in the Netherlands. It was the early 50s. I think it was 1951. He was a Dutch ophthmologist (eye doctor MD) who discovered many school children with different colored eyes (heterochromatica ) were deaf. WS is a leading cause of deafness.
What else can I help you with?
What type of genetic disorder is waardenburg syndrome?
Waardenburg synrome is an autosomal genetic disorder characterized by deafness, confluent brows, early grey hair as young as 12, different colored eyes or unusually brilliant blue eyes. Source US NIH Deafness and other communcation disorders. Its named Waardenburg because it was discovered Prietrus Waardenburg who noticed girls and boys with unmatching eyes tend to deafness. There are four main types.
What makes people be born with one brown eye and one blue eye?
This condition is known as heterochromia. It can be caused by a variety of factors, including genetic mutations, genetic mosaicism, or conditions like Waardenburg syndrome and Horner syndrome. It is a rare occurrence, but generally does not cause any vision problems.
When was Klinefelter's syndrome discovered?
Klinefelter's syndrome was first identified in 1942 by Harry Klinefelter and his colleagues. They described a group of men with underdeveloped testes and other characteristic features that became known as Klinefelter's syndrome.
When was turner syndrome discovered?
Turner's syndrome was first described by Dr. Henry Turner in 1938, but it was not until 1960 that the chromosomal abnormality was discovered. ...
When and who discovered Marshall syndrome?
Marshall syndrome was first described in 1971 by Dr. John Marshall and his colleagues. It is a rare genetic disorder characterized by various features, including distinctive facial traits, skeletal abnormalities, and hearing loss. The syndrome is caused by mutations in the B4GALT7 gene, which affects glycosylation processes in the body.
How is piebaldism different from Waardenburg syndrome?
Piebaldism and Waardenburg syndrome are both genetic disorders that affect pigmentation. However, piebaldism primarily causes a white forelock or patch of white hair and depigmented skin areas, while Waardenburg syndrome is characterized by wider-ranging symptoms including deafness, changes in skin pigmentation, and abnormalities of the eyes, hair, or face shape. Waardenburg syndrome is generally more variable and can affect multiple systems beyond just pigmentation.
What type of genetic disorder is waardenburg syndrome?
Waardenburg synrome is an autosomal genetic disorder characterized by deafness, confluent brows, early grey hair as young as 12, different colored eyes or unusually brilliant blue eyes. Source US NIH Deafness and other communcation disorders. Its named Waardenburg because it was discovered Prietrus Waardenburg who noticed girls and boys with unmatching eyes tend to deafness. There are four main types.
Does Waardenburg syndrome effect specfic populations of people more than others?
Waardenburg syndrome affects people of all ethnicities equally. However, certain features of the syndrome may be more noticeable in individuals with lighter skin and hair due to the contrast in pigmentation.
What illness causes heterochromia?
Glaucoma, Waardenburg syndrome, Neurofibromatosis, or some mild infection infecting one eye.
Is there any link between Waardenburg syndrome and dyspraxia?
Waardenburg syndrome is a genetic condition characterized by hearing loss and pigmentation differences, while dyspraxia is a developmental coordination disorder affecting physical coordination and movement. There is no established direct link between the two; however, some individuals with Waardenburg syndrome may experience challenges that could overlap with dyspraxia, particularly in motor skills or coordination. Further research is needed to explore any potential connections or shared underlying factors.
What are some causes of deafness?
# Meningitis # Prebycusis # Otis Media # Tinnitus # Pematurity # Cytomegaloirus # treacher collinssyndrome # Waardenburg syndrome
What is Waardenburg's population?
The population of Waardenburg is 2,330.
Is waardenburg syndrome caused by a dominant or recessive allele?
Waardenburg syndrome is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the condition. However, there are rare cases where it can be inherited in an autosomal recessive pattern, requiring two copies of the mutated gene.
What percentage of cleft lip cases are associated with a genetic syndrome?
Approximately 5% of cleft conditions are associated with a genetic syndrome, including Van der Woude, Opitz, Aarskog, Fryns, Waardenburg, and Coffin-Siris.
When was Petrus Johannes Waardenburg born?
Petrus Johannes Waardenburg was born in 1886.
What is an integumentary disorder such as Waardenburg syndrome?
it is a large genatalia wart that only some men grow on the tip of there penis it is a large genatalia wart that only some men grow on the tip of there penis Waardenburg syndrome is a genetic disorder effecting hair, eye, facial pigment. It can effect facial features too such a shape of lips, nose bridge, eyebrows. It is most definitely not a genitalia , genital wart.
My child was born with Waardenburg syndrome. I don't have it. I want to know how did she get it?
The disorder is autosomal dominant, so she would have gotten the gene from either one of her parents. Since not every person has the same symptoms, and symptoms can be very subtle, it's possible for one of her parents to carry the gene without knowing it. Some people with the syndrome have only minor signs, like a patch of white hair, without any difficulties related to hearing or the muscular system. Consulting with a genetic counselor may be helpful for your family as you sort out this question. Best wishes! Waardenburg syndrome can skip a generation or as above the signs can so subtle as to be unrecognizable. I read of a case where a woman gave birth to triplets with Waardenburg when there was no known instances of the genetic syndrome
