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.
Consultations
See the list below:
-
Clinical geneticist
-
Developmental pediatrician
-
Neurologist
-
Cardiologist
-
Ophthalmologist
-
Orthopedist
-
Physical therapist
-
Occupational therapist
-
Speech language pathologist
-
Audiologist
-
Dentist
-
Nephrologist
Diet
See the list below:
-
No special diet is required.
Activity
See the list below:
-
Activities are limited because of profound mental retardation and physical limitations.
-
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.
