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Jul 4, 2023 · Waardenburg syndrome (WS) is a group of genetic conditions inherited in an autosomal dominant fashion.[1] It is named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who described it in 1951.[1] During embryogenesis, there is an abnormal distribution of melanocytes, which results in patchy areas of depigmentation. It is a rare disease, caused by loss of pigmentary cells ...
- Naila Ahmed jan, Ryan K. Mui, Sadia Masood
- 2023/07/04
Ocular Features: Waardenburg syndrome is a disorder of pigmentation, sensorineural deafness, and a characteristic facial (nasal root) morphology. Some have neural tube defects. Based on clinical criteria, the syndrome has been divided into types 1, 2, 3, and 4, with subtypes of 2 and 4 .
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Jul 23, 2020 · A total of five patients with Waardenburg syndrome from our hospital, aged between 1 and 8 years, were included in the present study. The clinical data of these patients were analyzed, and the ocular manifestations and treatments were described. The general manifestations included hearing loss (1/5), broad high nasal root (2/5) and hypoplasia ...
- Yan Liu, Hui Pan, Jing Wang, Qinke Yao, Ming Lin, Bo Ma, Jin Li
- 10.3892/etm.2020.9035
- 2020
- Exp Ther Med. 2020 Oct; 20(4): 3072-3077.
May 25, 2023 · Illustrator: Jessica Reynolds, MS. Copyeditor: Stacy Johnson, LMSW. Modified: 25 May 2023. What is Waardenburg syndrome? Waardenburg syndrome is a rare congenital disease involving a group of genetic conditions, including distinctive facial features, discoloration of various body parts, and congenital hearing loss.
- What is Waardenburg syndrome?Waardenburg syndrome is a rare congenital disease involving a group of genetic conditions, including distinctive facial features, discoloration of...
- What causes Waardenburg syndrome?Waardenburg syndrome is usually caused by genetic mutations that are either inherited or occur spontaneously for unclear reasons. According to seve...
- What are the signs and symptoms of Waardenburg syndrome?Primary features of Waardenburg syndrome include distinctive facial abnormalities; unusually diminished pigmentation (i.e., partial albinism) of th...
- How is Waardenburg syndrome diagnosed?Waardenburg syndrome is usually diagnosed at birth or early childhood based upon a complete patient and family history, a thorough clinical assessm...
- How is Waardenburg syndrome treated?The treatment of WS aims initially to resolve the symptoms that are apparent in each individual. Such treatment may require the coordinated medical...
- What are the most important facts to know about Waardenburg syndrome?Waardenburg syndrome includes various genetic conditions, such as distinctive facial features; unusually diminished pigmentation of the hair, skin,...
Oct 4, 2003 · This abnormality is one of the cardinal signs observed in all four forms of Waardenburg syndrome. It affects the eyes, hair, and skin. Eyes. Hypopigmentation of the iris results in a brilliant blue color that may be bilateral or unilateral (heterochromia, different color) and complete or partial.
Disease at a Glance . Summary. Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. Genetic changes in the PAX3 gene cause the symptoms observed in this condition.
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