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Cosa (chi) è Waardenburg syndrome - definizione
Waardenburg syndrome
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GENETIC CONDITION INVOLVING HEARING LOSS AND DEPIGMENTATION
Waardenburg's syndrome; Waardenburg's Syndrome; Waardenburg Syndrome; Waardenburg syndrome type I; Waardenburg syndrome type 2; Waardenburg syndrome type IIA; Waardenburg syndrome type 2A; Waardenburg syndrome type II; WS2A; Waardenburg syndrome type 2B; Waardenburg syndrome type IIB; Waardenburg syndrome type 2C; Waardenburg syndrome type IIC; Waardenburg syndrome type IID; WS2D; Waardenburg syndrome type 3; Waardenburg syndrome type III; Klein-Waardenburg syndrome; Waardenburg syndrome, type 4; Waardenburg syndrome type 4; Waardenburg syndrome type IV; Waardenberg-Hirschsprung disease; Waardenburg-Shah syndrome; Waardenburg type Pierpont; Waardenburg-Shah; Waardenburg-Hirschsprung; Waardenburg-Klein syndrome; Waardenberg syndrome; Klein–Waardenburg syndrome; Shah–Waardenburg syndrome; Waardenburg syndrome type 4B; Waardenburg syndrome type 4A; Waardenburg syndrome type 4C; Wardenburg syndrome; Waardenburg–Shah syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum.
Waardenburg Syndrome Type 4A
.png?width=200 "The blue irises seen in the image present a common phenotype seen by patient of Type 4A Waardenburg Syndrome. However, patients of the Shah-Waardenburg Syndrome do not display signs of dystopia canthorum as seen in other types of Waardenburg Syndromes.")
SUBTYPE OF WAARDENBURG SYNDROME TYPE 4 (WAARDENBURG-SHAH SYNDROME) CAUSED BY MUTATIONS IN EDNRB
Shah-Waardenburg syndrome; The Waardenburg Syndrome Type 4A: Shah-Waardenburg Syndrome; Waardenburg Syndrome Type 4A: Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung’s disease.
Waardenburg Syndrome Type 2D
![heterochromia]] as a symptom of type 2D Waardenburg syndrome. The patient also lacks the dystopia canthorum which distinguishes them from Type 1 patients.](https://commons.wikimedia.org/wiki/Special:FilePath/Heterochromia plos.png?width=200 "heterochromia]] as a symptom of type 2D Waardenburg syndrome. The patient also lacks the dystopia canthorum which distinguishes them from Type 1 patients.")
HUMAN DISEASE
Waardenburg syndrome type 2D; Draft:The Waardenburg Syndrome Type 2D; The Waardenburg Syndrome Type 2D
Waardenburg Syndrome Type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea.
