Wolf-Hirschhorn syndrome: Difference between revisions

	WikiDoc Resources for Wolf-Hirschhorn syndrome
Articles
Most recent articles on Wolf-Hirschhorn syndrome Most cited articles on Wolf-Hirschhorn syndrome Review articles on Wolf-Hirschhorn syndrome Articles on Wolf-Hirschhorn syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Wolf-Hirschhorn syndrome Images of Wolf-Hirschhorn syndrome Photos of Wolf-Hirschhorn syndrome Podcasts & MP3s on Wolf-Hirschhorn syndrome Videos on Wolf-Hirschhorn syndrome
Evidence Based Medicine
Cochrane Collaboration on Wolf-Hirschhorn syndrome Bandolier on Wolf-Hirschhorn syndrome TRIP on Wolf-Hirschhorn syndrome
Clinical Trials
Ongoing Trials on Wolf-Hirschhorn syndrome at Clinical Trials.gov Trial results on Wolf-Hirschhorn syndrome Clinical Trials on Wolf-Hirschhorn syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Wolf-Hirschhorn syndrome NICE Guidance on Wolf-Hirschhorn syndrome NHS PRODIGY Guidance FDA on Wolf-Hirschhorn syndrome CDC on Wolf-Hirschhorn syndrome
Books
Books on Wolf-Hirschhorn syndrome
News
Wolf-Hirschhorn syndrome in the news Be alerted to news on Wolf-Hirschhorn syndrome News trends on Wolf-Hirschhorn syndrome
Commentary
Blogs on Wolf-Hirschhorn syndrome
Definitions
Definitions of Wolf-Hirschhorn syndrome
Patient Resources / Community
Patient resources on Wolf-Hirschhorn syndrome Discussion groups on Wolf-Hirschhorn syndrome Patient Handouts on Wolf-Hirschhorn syndrome Directions to Hospitals Treating Wolf-Hirschhorn syndrome Risk calculators and risk factors for Wolf-Hirschhorn syndrome
Healthcare Provider Resources
Symptoms of Wolf-Hirschhorn syndrome Causes & Risk Factors for Wolf-Hirschhorn syndrome Diagnostic studies for Wolf-Hirschhorn syndrome Treatment of Wolf-Hirschhorn syndrome
Continuing Medical Education (CME)
CME Programs on Wolf-Hirschhorn syndrome
International
Wolf-Hirschhorn syndrome en Espanol Wolf-Hirschhorn syndrome en Francais
Business
Wolf-Hirschhorn syndrome in the Marketplace Patents on Wolf-Hirschhorn syndrome
Experimental / Informatics
List of terms related to Wolf-Hirschhorn syndrome

	Wolf-Hirschhorn syndrome;
ICD-10	Q93.3
ICD-9	758.3
OMIM	194190

VisualWikitext

Latest revision as of 16:07, 22 December 2015

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

Diagnosis

Symptoms

Seizures
Severe to profound mental retardation

Physical Examination

General

Scoliosis

Head

Eyes

Ears

Hearing loss
Ear tags or pits

Throat

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

Template:WH Template:WS

[1] 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.

[2] 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.

[3] Wolf U, Reinwein H, Porsch R, et al. [Deficiency on the short arms of a chromosome No. 4]. Humangenetik. 1965;1(5):397-413.

[1]

[2]

[3]

@@ Line 1: / Line 1: @@
+__NOTOC__
 {{Infobox_Disease |
    Name           = Wolf-Hirschhorn syndrome |
@@ Line 15: / Line 16: @@
 {{SI}}
 {{CMG}}
+{{SK}} deletion 4p; 4p- syndrome; chromosome 4p16.3 deletion syndrome; Pitt-Rogers-Danks syndrome; PRDS; Pitt syndrome; Wittwer syndrome
 ==Overview==
-'''Wolf-Hirschhorn syndrome''', also known as '''deletion 4p''' and '''4p- syndrome'''.
+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==
@@ Line 24: / Line 27: @@
 ==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.
+===Associated Conditions===
+*[[Heart defects]]
+*Renal anomalies
+*[[Delayed bone age]]
 ==Diagnosis==
 ==Symptoms==
-The most chiommon abnormalties seen include severe to profound [[mental retardation]], [[microcephaly]] ([[small head]]), [[seizures]], poor muscle tone, and [[cleft lip]] and/or cleft palate. Characteristic facial features, include [[strabismus]], [[hypertelorism]], down-turned "fishlike" mouth, short upper lip and philtrum, small chin, ear tags or pits, and cranial asymmetry.  Occasional abnormalities include heart defects, [[hypospadias]], [[scoliosis]], ptosis, fused teeth, hearing loss, delayed bone age, low hairline with webbed neck, and renal anomalies.
+*[[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==