Report Broken Links | Exchange Banners | Contact Us
International Birth Defects Information Systems
Wolf - Hirschhorn Syndrome 4p-

International Birth Defects Information Systems



Wolf - Hirschhorn
4p minus Syndrome
4p-


Topics: | 4p- Deletion | Monosomy 4p | Monosomi 4p syndromet | Wolf-Hirschhorn syndrom | Wolfs syndrom 4p | WHS | WHSC1 |

Related Topics : | Wolf-Hirschhorn Syndrome; WHS | Wolf-Hirschhorn Syndrome Candidate 1; WHSC1 |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Swedish | Ukrainian |

Notes per Visitors  

Wolf-Hirschhorn syndrome is due to a specific chromosomal deletion which is the cause of typical facial features and developmental delays. The anomalies are due to the lack of chromosomal material from the top of one of the number 4 chromosomes. This results in missing genes which account for the anomalies. The degree of deletions and scope of symptoms vary widely and reflect the amount of genetic material that is missing.

Some key features ...

  • Small head size (microcephaly)
  • "Greek helmet like" nose shape
  • Wide spaced eyes (hypertelorism)
  • Mental retardation
  • Note that in some families the syndrome may be due to an inherited chromosomal abnormality.
Our Team Recommends ...
  • Patients and parents undergo chromosome studies since the chromosome deletion may be due to familiar chromosome anomalies.

Wolf Hirschhorn Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, December 29, 2005
Visitor Comments [for Professionals mainly]
Alternative titles; symbols
WOLF - HIRSCHHORN CHROMOSOME REGION; WHCR
The Wolf - Hirschhorn syndrome … is characterized by severe growth retardation and mental defect, microcephaly, 'Greek helmet' facies, and closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects). The critical zone for development of this disorder is located distal to the Huntington disease-linked G8 … In 7 cases of WHS, Quarrell et al. (1991) found that there was de novo deletion or rearrangement of 4p; in each case the abnormality had arisen on the paternal chromosome. A paternal age effect was not observed, however …
Tachdjian et al. (1992) described prenatal diagnosis of 5 cases studied because of severe intrauterine growth retardation detected on routine ultrasound …
Battaglia et al. (1999) evaluated 15 patients with the 4p- syndrome (12 females, 3 males) in 3 centers. Follow-up spanning 16 years was achieved in 4 of the cases. Thirteen cases were detected by cytogenetics … Of the 15 patients, 5 (33.3%) had heart lesions; 7 (47%) had orofacial clefts; 13 (87%) had a seizure disorder that tended to disappear with age; and all 15 had severe/profound developmental retardation …

Wolf Hirschhorn Syndrome Candidate 1
Victor A. McKusick, OMIM, Johns Hopkins University, April 20, 2005
Visitor Comments [for Professionals mainly]
Wolf - Hirschhorn syndrome is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3) … critical region, has been confined to a region of 165 kb … sequenced completely during the search for the Huntington disease gene … They designated the gene WHSC1 (Wolf - Hirschhorn syndrome candidate-1) …

4p- syndrome
Mr. L. Bentley, August 10, 2006
Visitor Comments [Support Groups]
General Information
... The amount of material deleted may range from about 50% of the short arm to a small break that can't be detected by normal chromosome analysis. In 10-20% of the cases the deletion can occur as a result of a translocated chromosome in the parent. Because of this wide range of deleted material, the effect on our children varies widely. Some can walk, talk and assist in their daily care while others are not verbal and require constant care. Some are near normal height and weight while others at ages 20-30 weight only 35-50 lbs and are only 45-55 inches tall. The medical involvement also varies from near normal to severe heart and other problems. However, a common trait seems to be that our children are (for the most part) happy, loving children.

Wolf - Hirschhorn or 4p- deletion syndrome
Department of Medical Genetics, University of South Alabama, April 16, 2003
Visitor Comments [Support Groups]
Due to a specific chromosomal deletion which is the cause of typical facial features and developmental delays. The anomalies are due to the lack of chromosomal material from the top of one of the number 4 chromosomes. This results in missing genes which account for the anomalies. The degree of deletions and scope of symptoms vary widely and reflect the amount of genetic material that is missing.
Some key features
Small head size (microcephaly)
"Greek helmet like" nose shape
Wide spaced eyes (hypertelorism)
Mental retardation
Note that in some families the syndrome may be due to an inherited chromosomal abnormality

Clinical diagnostic criteria for Wolf - Hirschhorn syndrome.
M. Zollino et al. (Abstract ASHG 1999)
Eighteen Wolf - Hirschhorn syndrome (WHS) patients have been comparatively evaluated for their clinical phenotypes and their respective genotypes. In eleven patients a 4 pter deletion, with proximal breakpoint varying from p15.1 to p16.1 … three clinical categories. 1)Patients harboring a large deletion usually presented with a severe phenotype, including markedly delayed psychomotor and physical growth, microcephaly (11/11), congenital heart defects (9/11), midline defects (9/11), renal abnormalities (5/11) and seizures(10/11). 2)Patients harboring a microdeletion of 4.4-3.2 Mb presented with a milder phenotype, usually lacking congenital malformations, with less severe developmental delay, but microcephaly still present. 3) The patient harboring the smallest microdeletion (2.8 Mb) and both nondeleted patients had a very mild expression of the disease: the head circumference was normal, congenital malformations were absent, mental and growth retardation was of a mild degree …

Wolf - Hirschhorn
I.B.I.S. Birth Defects, December 20, 2000
Visitor Comments [Ukrainian]
Factsheet in Ukrainian