Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan

Khan, Taimoor; Safdar, C. Aqeel; Zameer, Sheharyar; Khushdil, Arshad

doi:10.1186/s13741-019-0135-x

Cited by 7 publications

(5 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Type 4 WS, which is exhibited in our case series, is the rarest of the four types, presenting with the additional clinical finding of congenital aganglionic megacolon (Hirschsprung disease) with an incidence of 1/1,000,000. Available data suggests that only 50 cases of type 4 WS have been documented, thus highlighting the rarity of this particular subtype [13,15,16].…”

Section: Discussionmentioning

confidence: 99%

Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review

Kankipati,

Mahalingam,

Reshie

et al. 2024

Cureus

View full text Add to dashboard Cite

Researching Waardenburg syndrome (WS) underscores its rarity and complex symptomatology, presenting as a congenital disorder predominantly inherited in an autosomal dominant pattern. It exhibits incomplete penetrance, which results in a wide range of clinical manifestations, with variable phenotypic presentations within the same family as well. The most commonly found features are facial abnormalities, hypopigmentation of the skin, heterochromia iridis, and conductive deafness. Adding to the eccentricities of this syndrome are its four subtypes, each presenting with its specific clinical features, which helps in delineating the subtype. A mutated paired box 3 (PAX3) gene manifests as type 1 Waardenburg, which is characterized by sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), widely spaced eyes, congenital sensorineural hearing impairment, and patchy pigmentation of the iris, skin, and hair. Due to insufficient research, it has been difficult to isolate all the genetic mutations responsible for type 2, but its phenotype is very similar to type 1 with minor differences. Type 3 is characterized by musculoskeletal abnormalities. Waardenburg-Shah syndrome (type 4), which is associated with Hirschsprung disease, is the rarest subtype and is caused by genetic mutations in the endothelin receptor type B (EDNRB), endothelin-3 (EDN3), or sex-determining region Y (SRY) box 10 ( SOX10) gene. We present a case series of this unique subtype that presented with a typical history of constipation due to Hirschsprung disease and had phenotypic manifestations of white forelock, heterochromia iridis, and bilateral sensorineural hearing loss (SNHL). In parallel with a positive 1° family history of a white forelock, we reflect on the fundamentals of this unique syndrome, as well as its management protocols, highlighting the importance of genetic counseling and cultivation of a high index of suspicion for its diagnosis.

show abstract

Section: Discussionmentioning

confidence: 99%

Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review

Kankipati,

Mahalingam,

Reshie

et al. 2024

Cureus

View full text Add to dashboard Cite

show abstract

“…These genes are involved in melanocyte development and nerve cells development in the intestine. Patients usually present in the neonatal period with pigmentary anomalies (heterochromia of the irides, possibly retinal pigment abnormalities and/or hypopigmented patches on the skin), neurosensory deafness (frequently bilateral, but can be unilateral), and Hirschsprung disease (1–4).…”

Section: Figurementioning

confidence: 99%

A Girl With Blue Eyes and Intestinal Obstruction

Peña-Vélez¹,

Sierra

Gil-Vargas³

et al. 2023

Journal of Pediatric Gastroenterology &Amp; Nutrition

View full text Add to dashboard Cite

show abstract

“…[23] 19. Waardenburg syndrome Type 4 [24] 20. BADAS BADAS (Bowel-associated dermatosis-arthritis syndrome) is an uncommon neutrophilic dermatosis characterized by arthralgias, fever, myalgias, and malaise as well as cutaneous eruptions on the extremities and trunk.…”

Section: Trichotillomania and Rapunzel Syndromementioning

confidence: 99%