Wolf-Hirschhorn syndrome

Jump to: navigation, search
Wolf-Hirschhorn syndrome
ICD-10 Q93.3
ICD-9 758.3
OMIM 194190

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

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

Physical Examination

General

Head

Eyes

Ears

Throat

Neck

Genitourinary

Extremities

References

  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.

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


Linked-in.jpg