Wolf-Hirschhorn syndrome: Difference between revisions
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{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = Wolf-Hirschhorn syndrome | | Name = Wolf-Hirschhorn syndrome | | ||
Image = | | Image = |Image:Wolf-hirschhorn.jpg | ||
Caption = | | Caption = |A neonate with Wolf-hirschhorn syndrome | ||
DiseasesDB = 32279 | | DiseasesDB = 32279 | | ||
ICD10 = {{ICD10|Q|93|3|q|90}} | | ICD10 = {{ICD10|Q|93|3|q|90}} | | ||
| Line 16: | Line 17: | ||
{{CMG}} | {{CMG}} | ||
{{ | {{SK}} deletion 4p; 4p- syndrome; chromosome 4p16.3 deletion syndrome; Pitt-Rogers-Danks syndrome; PRDS; Pitt syndrome; Wittwer syndrome | ||
==Overview== | ==Overview== | ||
Wolf-Hirschhorn syndrome is a rare disease due to the deletion of the short arm on [[chromosome]] 4 which causes severe to profound [[mental retardation]], [[microcephaly]] ([[small head]]), [[seizures]], [[poor muscle tone]], and [[cleft lip]] and/or [[cleft palate]]. | |||
[[ | |||
==Historical Perspective== | |||
Wolf-Hirschhorn syndrome was first described in 1961 by the Americans Herbert L. Cooper and Kurt Hirschhorn<ref>Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian Chrom Nwsl. 1961;4:14.</ref>, and thereafter gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine 'Humangenetik'.<ref>Hirschhorn K, Cooper HL, Firschein IL. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1965;1(5):479-82.</ref> <ref>Wolf U, Reinwein H, Porsch R, et al. [Deficiency on the short arms of a chromosome No. 4]. Humangenetik. 1965;1(5):397-413.</ref>It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of [[chromosome]] 4. | |||
== | ==Pathophysiology== | ||
Wolf-Hirshhorn syndrome is caused by a partial deletion of the short arm of [[chromosome]] 4, particularly in the region of {{Gene|WHSC1}} and {{Gene|WHSC2}}. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a [[Chromosomal translocation|chromosome translocation]]. In the cases of familial translocation, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. The symptoms and phenotype do not differ based on the size of the deletion. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescent in situ hybridization (FISH). [[Genetic testing]] and [[genetic counseling]] is offered to affected families | Wolf-Hirshhorn syndrome is caused by a partial deletion of the short arm of [[chromosome]] 4, particularly in the region of {{Gene|WHSC1}} and {{Gene|WHSC2}}. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a [[Chromosomal translocation|chromosome translocation]]. In the cases of familial translocation, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. The symptoms and phenotype do not differ based on the size of the deletion. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescent in situ hybridization (FISH). [[Genetic testing]] and [[genetic counseling]] is offered to affected families. | ||
===Associated Conditions=== | |||
*[[Heart defects]] | |||
*Renal anomalies | |||
*[[Delayed bone age]] | |||
==Diagnosis== | |||
==Symptoms== | |||
*[[Seizures]] | |||
*Severe to profound [[mental retardation]] | |||
==Physical Examination== | |||
===General=== | |||
*[[Scoliosis]] | |||
===Head=== | |||
*[[Cranial asymmetry]] | |||
*[[Hypertelorism]] | |||
*[[Low hairline]] | |||
*[[Microcephaly]] ([[small head]]) | |||
*[[Small chin]] | |||
===Eyes=== | |||
*[[Ptosis]] | |||
*[[Strabismus]] | |||
===Ears=== | |||
*[[Hearing loss]] | |||
*[[Ear tags]] or [[ear pits|pits]] | |||
===Throat=== | |||
*[[Cleft lip]] | |||
*[[Cleft palate]] | |||
*[[Down-turned fishlik mouth]] | |||
*[[Fused teeth]] | |||
*[[Short upper lip]] and [[Short philtrum]] | |||
===Neck=== | |||
*[[Webbed neck]] | |||
===Genitourinary=== | |||
*[[Hypospadias]] | |||
===Extremities=== | |||
*[[Poor muscle tone]] | |||
==References== | ==References== | ||
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{{Chromosomal abnormalities}} | {{Chromosomal abnormalities}} | ||
[[de:Wolf-Hirschhorn-Syndrom]] | [[de:Wolf-Hirschhorn-Syndrom]] | ||
[[fr:Syndrome de Wolf-Hirschhorn]] | [[fr:Syndrome de Wolf-Hirschhorn]] | ||
Latest revision as of 16:07, 22 December 2015
| Wolf-Hirschhorn syndrome | |
| ICD-10 | Q93.3 |
|---|---|
| ICD-9 | 758.3 |
| OMIM | 194190 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: deletion 4p; 4p- syndrome; chromosome 4p16.3 deletion syndrome; Pitt-Rogers-Danks syndrome; PRDS; Pitt syndrome; Wittwer syndrome
Overview
Wolf-Hirschhorn syndrome is a rare disease due to the deletion of the short arm on chromosome 4 which causes severe to profound mental retardation, microcephaly (small head), seizures, poor muscle tone, and cleft lip and/or cleft palate.
Historical Perspective
Wolf-Hirschhorn syndrome was first described in 1961 by the Americans Herbert L. Cooper and Kurt Hirschhorn[1], and thereafter gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine 'Humangenetik'.[2] [3]It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4.
Pathophysiology
Wolf-Hirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of WHSC1 and WHSC2. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial translocation, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. The symptoms and phenotype do not differ based on the size of the deletion. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescent in situ hybridization (FISH). Genetic testing and genetic counseling is offered to affected families.
Associated Conditions
- Heart defects
- Renal anomalies
- Delayed bone age
Diagnosis
Symptoms
- Seizures
- Severe to profound mental retardation
Physical Examination
General
Head
Eyes
Ears
Throat
Neck
Genitourinary
Extremities
References
- ↑ Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian Chrom Nwsl. 1961;4:14.
- ↑ Hirschhorn K, Cooper HL, Firschein IL. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1965;1(5):479-82.
- ↑ Wolf U, Reinwein H, Porsch R, et al. [Deficiency on the short arms of a chromosome No. 4]. Humangenetik. 1965;1(5):397-413.
Template:Chromosomal abnormalities
de:Wolf-Hirschhorn-Syndrom zh-classical:第四染色體缺失症候群 it:Sindrome di Wolf-Hirschhorn nl:Syndroom van Wolf-Hirschhorn