Wolf-Hirschhorn Syndrome Treatment & Management

Updated: May 15, 2017
  • Author: Santina A Zanelli, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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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 - Sodium bromide is a helpful drug for many patients with WHS, particularly to prevent status epilepticus; [8] valproic acid is used for atypical absence seizures, and benzodiazepines are also 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. [22]

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.