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Wolf-Hirschhorn Syndrome Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Luis O Rohena, MD  more...
Updated: Feb 15, 2015

Medical Care

Medical care is supportive in patients with Wolf-Hirschhorn syndrome. The underlying disorder has no known treatment.

  • Gavage feeding and/or gastrostomy: This is indicated for feeding difficulties.
  • Seizure control: Valproic acid is used for atypical absence seizures, and benzodiazepines are indicated in status epilepticus.
  • Multidisciplinary team approach, including speech and communication therapy and sign language
  • Standard care for skeletal anomalies, ophthalmologic abnormalities, congenital heart defects, and hearing loss
  • Genetic counseling
    • Recurrence risk is negligible unless a parent is a translocation carrier.
    • Reassessing patients with abnormal phenotypes previously reported as cytogenetically normal is imperative because the precise diagnosis in the propositus has important reproductive implications.
    • Fluorescence in situ hybridization (FISH) can demonstrate submicroscopic translocations in cytogenetically normal parents and affected offspring.
    • Prenatal diagnosis is clinically available to families in which one parent is known to be a carrier of a chromosome rearrangement. Guidelines for prenatal genetic screening have been established.[18]

Surgical Care

See the list below:

  • Nissen-Hill fundoplication procedure is indicated for severe gastroesophageal reflux.
  • Standard orthopedic surgery is recommended for foot deformities at an early age.


See the list below:

  • Clinical geneticist
  • Developmental pediatrician
  • Neurologist
  • Cardiologist
  • Ophthalmologist
  • Orthopedist
  • Physical therapist
  • Occupational therapist
  • Speech language pathologist
  • Audiologist
  • Dentist
  • Nephrologist


See the list below:

  • No special diet is required.


See the list below:

  • Activities are limited because of profound mental retardation and physical limitations.
Contributor Information and Disclosures

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.

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 Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD 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

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.

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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-Hirshhorn syndrome showing characteristic features of the condition.
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