Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Abstract

Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

Wolf-Hirschhorn Syndrome (WHS), A Case Report and Review of Literature Submit Manuscript

“…Genetic counseling provides families with information on the nature and implications of inherited genetic disorders, as a means of facilitating shared health care decisions. [1][2][3][4]. "Its frequency is estimated as 1/50,000-1/20,000 births, with a female predilection of 2:1" [5].…”

Wolf-Hirschhorn Syndrome-associated genes are enriched in motile neural crest and affect craniofacial development inXenopus laevis

“…Children with the disorder demonstrate a low-profile nasal bridge and prevalent lower forehead, with wide-set eyes and a short philtrum (together commonly referred to as the Greek Warrior's Helmet presentation). Microcephaly and micrognathia are present with varying severity, and comorbidities commonly include facial asymmetries and cleft palate [21]. Given the commanding role of cranial neural crest (CNC) cell proliferation, migration, and differentiation in properly coordinated facial patterning of nearly all of these affected tissues, we hypothesized that certain WHS-affected genes could play critical roles in neural crest maintenance, motility, or specification, and that their depletion would thus disproportionately impact tissues derived from the neural crest.…”

A genotype–phenotype correlation study reveals that a non‐coding RNA might be associated with cardiovascular anomalies in fetuses with WHS

“…194190) is a rare genetic disease caused by a partial deletion from the short arm of chromosome 4. It consists of a broad range of clinical manifestations, including a characteristic craniofacial appearance, growth retardation, intellectual disability, seizures, structural abnormalities, etc . The deletion size also varies greatly and is reported to range from 67 kb to 37 Mb .…”

“…It consists of a broad range of clinical manifestations, including a characteristic craniofacial appearance, growth retardation, intellectual disability, seizures, structural abnormalities, etc. 1,2 The deletion size also varies greatly and is reported to range from 67 kb to 37 Mb. 3,4 Two WHS critical regions (WHSCR and WHSCR-2) have been postulated by researchers, containing candidate genes such as WHSC1, WHSC2, and LETM1.…”