Wolf-Hirschhorn Syndrome Treatment & Management

Updated: Jan 19, 2021
  • Author: Santina A Zanelli, MD; Chief Editor: Luis O Rohena, MD, PhD, 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; [6] 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. [26]


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.