Patient Education

Up-to-date information about the syndrome should be made available to the families through the following organizations:

The 4P-Support Group, Inc
- 131 Green Cook Road
- Sunbury, OH 43074
- Phone: (740) 936-5095
- E-mail: amanda@4p-supportgroup.org
National Organization for Rare Disorders, Inc (NORD)
- 55 Kenosia Avenue
- Danbury, CT 06810
- Phone: (203) 744-0100
- Fax: (203) 798-2291
Chromosome Deletion Outreach, Inc.
- PO Box 724
- Boca Raton, FL 33429-0724
- Phone: (561) 395-4252
- E-mail: info@chromodisorder.org

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. [QxMD MEDLINE Link].
Wolf U, Reinwein H, Porsch R, et al. [Deficiency on the short arms of a chromosome No. 4]. Humangenetik. 1965. 1(5):397-413. [QxMD MEDLINE Link].
Battaglia A, Carey JC, South ST, et al. Wolf-Hirschhorn Syndrome. GeneReviews [Internet]. Updated 2015 Aug 20. [QxMD MEDLINE Link]. [Full Text].
Battaglia A, Carey JC, South ST. Wolf-Hirschhorn syndrome: A review and update. Am J Med Genet C Semin Med Genet. 2015. 169:216-23. [QxMD MEDLINE Link].
Kagitani-Shimono K, Imai K, Otani K, et al. Epilepsy in Wolf-Hirschhorn syndrome (4p-). Epilepsia. 2005. 46:150-5. [QxMD MEDLINE Link]. [Full Text].
Rutherford EL, Lowery LA. Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. Dev. Biol. 2016. 420:1-10. [QxMD MEDLINE Link]. [Full Text].
Zollino M, Doronzio PN. Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. J Hum Genet. 2018 Aug. 63 (8):859-61. [QxMD MEDLINE Link].
Lurie IW, Lazjuk GI, Ussova YI, et al. The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet. 1980 Jun. 17(6):375-84. [QxMD MEDLINE Link].
Maas NM, Van Buggenhout G, Hannes F, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet. 2008 Feb. 45(2):71-80. [QxMD MEDLINE Link].
Antonius T, Draaisma J, Levtchenko E, Knoers N, Renier W, van Ravenswaaij C. Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). Eur J Pediatr. 2008 Jul. 167 (7):807-10. [QxMD MEDLINE Link]. [Full Text].
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008 Feb. 121(2):404-10. [QxMD MEDLINE Link].
Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr. 2001. 48:75-113. [QxMD MEDLINE Link].
South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet. 2008 Jan. 16(1):45-52. [QxMD MEDLINE Link]. [Full Text].
Battaglia A, Filippi T, South ST, Carey JC. Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol. 2009 May. 51(5):373-80. [QxMD MEDLINE Link]. [Full Text].
Fisch GS, Grossfeld P, Falk R, et al. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet. 2010 Nov 15. 154C(4):417-26. [QxMD MEDLINE Link].
Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. Am J Med Genet A. 2007 Jun 1. 143(11):1169-73. [QxMD MEDLINE Link].
Zollino M, Di Stefano C, Zampino G, et al. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet. 2000. 94 (3):254-261. [QxMD MEDLINE Link].
Nowikovsky K, Froschauer EM, Zsurka G, et al. The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome. J Biol Chem. 2004 Jul 16. 279(29):30307-15. [QxMD MEDLINE Link]. [Full Text].
Schlickum S, Moghekar A, Simpson JC, et al. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. Genomics. 2004 Feb. 83(2):254-61. [QxMD MEDLINE Link].
Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur J Hum Genet. 2009 Jan. 17(1):129-32. [QxMD MEDLINE Link].
Hannes F, Hammond P, Quarrell O, Fryns JP, Devriendt K, Vermeesch JR. A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. Am J Med Genet A. 2012 May. 158A(5):996-1004. [QxMD MEDLINE Link].
Correa T, Mergener R, Leite JCL, et al. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. Biomed Res Int. 2018. 2018:5436187. [QxMD MEDLINE Link]. [Full Text].
Gofin Y, Mackay LP, Machol K, et al. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 Jan 14. [QxMD MEDLINE Link].
Xing Y, Holder JL Jr, Liu Y, et al. Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018 Aug. 298 (2):289-95. [QxMD MEDLINE Link].
[Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004 Sep. 114(3):889-94. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

A child with Wolf-Hirschhorn syndrome. Note the characteristic dysmorphic facial features, including prominent glabella, hypertelorism, beaked nose, and frontal bossing, collectively described as "Greek warrior helmet" facies.
A fetus with Wolf-Hirschhorn syndrome. Note the presence of "Greek warrior helmet" facies.
The result of a fluorescence in situ hybridization (FISH) study of a patient with Wolf-Hirschhorn syndrome. FISH photograph shows deletion of a locus-specific probe for the Wolf-Hirschhorn critical region (absence of a probe signal at 4p16.3).
G-banded karyotype showing deletion of 4p, derived from the mother, with balanced translocation (4p;8p).
A girl with Wolf-Hirschhorn syndrome showing characteristic features of the condition.

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Author

Santina A Zanelli, MD Associate Professor, Department of Pediatrics, Division of Neonatology, University of Virginia Health System

Santina A Zanelli, MD is a member of the following medical societies: American Academy of Pediatrics, American Epilepsy Society, Society for Neuroscience, Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Sections Wolf-Hirschhorn Syndrome
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