Wolf-Hirschhorn syndrome is a chromosomal deletion syndrome in which part of chromosome 4 is missing.
(See also Overview of Chromosome and Gene Disorders.)
In Wolf-Hirschhorn syndrome, part of chromosome 4 is missing.
Wolf-Hirschhorn syndrome is often fatal during infancy. Children who survive into their 20s typically have severe disabilities.
Symptoms of Wolf-Hirschhorn Syndrome
Symptoms of Wolf-Hirschhorn syndrome often include intellectual disability.
Children may also have epilepsy, a broad or beaked nose, scalp defects, drooping upper eyelids (ptosis) and gaps or fissures (colobomas) of the iris, cleft palate, and delayed bone development.
Boys may have undescended testes (cryptorchidism) and a misplaced opening of the urethra (hypospadias).
Some children have an immune deficiency, which means their body is less able to fight off infections.
Diagnosis of Wolf-Hirschhorn Syndrome
Before birth, ultrasound of the fetus and chromosomal testing
After birth, the appearance of the infant and chromosomal testing
Before birth, Wolf-Hirschhorn syndrome may be suspected based on findings detected during an ultrasound of the fetus or by chromosomal testing, which usually confirms the diagnosis.
After birth, doctors may diagnose Wolf-Hirschhorn syndrome based on the newborn's physical appearance. Doctors can confirm the diagnosis by chromosomal testing. (See also Next-generation sequencing technologies.)
Treatment of Wolf-Hirschhorn Syndrome
Supportive care
Treatment of Wolf-Hirschhorn syndrome is supportive and includes various therapies (such as educational interventions) that can help manage a person's symptoms and improve quality of life. Comprehensive feeding support for growth faltering and ensuring adequate nutrition is also important.
Doctors often prescribe medications to control seizures.
Surgery may be needed to repair more extensive cleft palates.
