Wolf-Hirschhorn Syndrome: Difference between revisions
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== Introduction == | == Introduction == | ||
Wolf–Hirschhorn syndrome (WHS), is a chromosomal deletion syndrome resulting from a partial/ | Wolf–Hirschhorn syndrome (WHS), is a chromosomal deletion syndrome resulting from a partial/ complete deletion on the short arm of chromosome 4 (4p16.3), also called the Wolf–Hirschhorn critical region (WHCR). <ref>Dufke A, Seidel J, Schöning M, Döbler-Neumann M, Kelbova C, Liehr T, Beensen V, Backsch C, Klein-Vogler U, Enders H (2000). Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. Cytogenetics and Cell Genetics. 91 (1–4): 81–4.</ref><ref>Descartes M, Korf B, Mikhail F. Chromosomes and Chromosomal Abnormalities. Swaiman's Pediatric Neurology (Sixth Edition), Elsevier, 2017, 268-276, <nowiki>ISBN 9780323371018</nowiki>,</ref>It was first described in 1961 by Hirschhorn and subsequently in 1965 by Wolf, and is known as the first example of a classic human chromosomal deletion syndrome. It is characterised by severe prenatal findings and confirmatory genetic testing, and is mainly described by isolated cases and case series.<ref name=":0">Lee W, Van Den Veyver I. Chromosome 4p Deletion Syndrome (Wolf-Hirschhorn Syndrome). Obstetric Imaging: Fetal Diagnosis and Care (Second Edition), Elsevier, 2018, Pages 626-630.e1. <nowiki>ISBN 9780323445481</nowiki>.</ref> | ||
It is also known as Wittwer syndrome, chromosome 4p16.3 deletion syndrome, Pitt-Rogers-Danks syndrome or Pitt syndrome. The syndrome is characterized by “Greek warrior helmet” facies, microcephaly, seizure disorder, closure defects (coloboma, cleft lip or palate, and cardiac defects), and growth and intellectual disability . There is a wide variation in phenotypic expression which can be explained by the size of the deletion.<ref>Powell C, Pandya A, Saif H, Babu K, Couser N. Eye Abnormalities in Patients With Chromosomal Disorders, Ophthalmic Genetic Diseases, Elsevier, 2019, Pages 1-13. <nowiki>ISBN 9780323654142</nowiki>,</ref> | |||
The incidence is reported as 1 in 50,000 cases and occurs more frequently in females (2:1).<ref>Paradowska-Stolarz AM (2014). "Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome". Adv Clin Exp Med. 23 (3): 485–9.</ref> | |||
== Etiology == | |||
A deletion in the short arm of chromosome 4 with contribution of genes within a 1.5-1.6 Mb region in the ~0.4-1.9 Mb terminal of 4p16.3 causes WHS<ref name=":1">South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet. 2008c;16:45–52.</ref>. | |||
Deletions greater than 3-5 Mb contribute to a higher risk of heart defects and cleft palate.<ref name=":1" /> | |||
== Clinical Presentation == | == Clinical Presentation == | ||
rare condition, characterized by severe prenatal onset growth restriction, typical facial features, and severe seizures,<ref name=":0" /> | |||
== Diagnostic Procedures == | == Diagnostic Procedures == | ||
Revision as of 16:38, 18 March 2022
Introduction[edit | edit source]
Wolf–Hirschhorn syndrome (WHS), is a chromosomal deletion syndrome resulting from a partial/ complete deletion on the short arm of chromosome 4 (4p16.3), also called the Wolf–Hirschhorn critical region (WHCR). [1][2]It was first described in 1961 by Hirschhorn and subsequently in 1965 by Wolf, and is known as the first example of a classic human chromosomal deletion syndrome. It is characterised by severe prenatal findings and confirmatory genetic testing, and is mainly described by isolated cases and case series.[3]
It is also known as Wittwer syndrome, chromosome 4p16.3 deletion syndrome, Pitt-Rogers-Danks syndrome or Pitt syndrome. The syndrome is characterized by “Greek warrior helmet” facies, microcephaly, seizure disorder, closure defects (coloboma, cleft lip or palate, and cardiac defects), and growth and intellectual disability . There is a wide variation in phenotypic expression which can be explained by the size of the deletion.[4]
The incidence is reported as 1 in 50,000 cases and occurs more frequently in females (2:1).[5]
Etiology[edit | edit source]
A deletion in the short arm of chromosome 4 with contribution of genes within a 1.5-1.6 Mb region in the ~0.4-1.9 Mb terminal of 4p16.3 causes WHS[6].
Deletions greater than 3-5 Mb contribute to a higher risk of heart defects and cleft palate.[6]
Clinical Presentation[edit | edit source]
rare condition, characterized by severe prenatal onset growth restriction, typical facial features, and severe seizures,[3]
Diagnostic Procedures[edit | edit source]
add text here relating to diagnostic tests for the condition
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Management / Interventions
[edit | edit source]
add text here relating to management approaches to the condition
Differential Diagnosis
[edit | edit source]
add text here relating to the differential diagnosis of this condition
Resources
[edit | edit source]
add appropriate resources here
References[edit | edit source]
- ↑ Dufke A, Seidel J, Schöning M, Döbler-Neumann M, Kelbova C, Liehr T, Beensen V, Backsch C, Klein-Vogler U, Enders H (2000). Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome. Cytogenetics and Cell Genetics. 91 (1–4): 81–4.
- ↑ Descartes M, Korf B, Mikhail F. Chromosomes and Chromosomal Abnormalities. Swaiman's Pediatric Neurology (Sixth Edition), Elsevier, 2017, 268-276, ISBN 9780323371018,
- ↑ 3.0 3.1 Lee W, Van Den Veyver I. Chromosome 4p Deletion Syndrome (Wolf-Hirschhorn Syndrome). Obstetric Imaging: Fetal Diagnosis and Care (Second Edition), Elsevier, 2018, Pages 626-630.e1. ISBN 9780323445481.
- ↑ Powell C, Pandya A, Saif H, Babu K, Couser N. Eye Abnormalities in Patients With Chromosomal Disorders, Ophthalmic Genetic Diseases, Elsevier, 2019, Pages 1-13. ISBN 9780323654142,
- ↑ Paradowska-Stolarz AM (2014). "Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome". Adv Clin Exp Med. 23 (3): 485–9.
- ↑ 6.0 6.1 South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet. 2008c;16:45–52.
