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In questa pagina puoi ottenere un'analisi dettagliata di una parola o frase, prodotta utilizzando la migliore tecnologia di intelligenza artificiale fino ad oggi:
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- frequenza di utilizzo
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- opzioni di traduzione delle parole
- esempi di utilizzo (varie frasi con traduzione)
- etimologia
Cosa (chi) è Waardenburg anophthalmia syndrome - definizione
Waardenburg anophthalmia syndrome
MICROPHTHALMIA WITH LIMB ANOMALIES, ALSO KNOWN AS OPHTHALMO-ACROMELIC SYNDROME (OAS), IS A RARE DEVELOPMENTAL DISORDER CHARACTERIZED BY BILATERAL MICROPHTHALMIA OR ANOPHTHALMIA, SYNOSTOSIS, SYNDACTYLY, OLIGODACTYLY AND/OR POLYDACTYLY
Draft:Waardenburg anophthalmia syndrome
Waardenburg anophthalmia syndrome is a rare autosomal recessive genetic disorder which is characterized by either microphthalmia or anophthalmia, osseous synostosis, ectrodactylism, polydactylism, and syndactylism. So far (according to OMIM), 29 cases from families in Brazil, Italy, Turkey, and Lebanon have been reported worldwide.
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.
