Wolf-Hirschhorn syndrome

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	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

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.

Diagnosis

Symptoms

Seizures
Severe to profound mental retardation

Physical Examination

Head

Eyes

Strabismus

Ears

Throat

Neck

Webbed neck

Extremities

Poor muscle tone

cleft lip and/or cleft palate.

Characteristic facial features, include , , down-turned fishlik mouth, short upper lip and philtrum, , ear tags or pits, and . Occasional abnormalities include heart defects, hypospadias, scoliosis, ptosis, fused teeth, hearing loss, delayed bone age, with , and renal anomalies.

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.

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