Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome is a genetic disorder when there is a deletion of the short arm of chromosome 4 (shown on the image on the left). It is a contiguous gene syndrome, where chromosome is missing some materials. In most cases (90% of the time), this disorder is not inherited. The parents can have a normal arrangement of the chromosomes, but their children can inherit a chromosome 4 with missing pieces. Some get it from unusual chromosome abnormality. Depending on how much of the genetic material is missing, the symptoms vary. Deletion of genes called WHSC1, LETM1, and MSX1 are signs and symtoms of Wolf-Hirschhorn syndrome.

Signs and symptoms:

• Small heads
• Foot deformity
• Greek helmet noses (broad bridges continuing to forehead)
• Widely spread eyes
• Metal retardation
• High forehead
• Arched eyebrows
• Deformed feet
• Seizures
• Hearing loss
• Skeletal abnormalities
• Brain structure abnormalities
• Heart defections
• Undeveloped organs (urinary and genitals)

Diagnosis and detections:

• Facial appearance
• Growth delay
• Ultrasound
• Seizures
• Retardation
• X rays
• Renal Ultrasonography (to examine kidneys and brains)
• Chromosomal microarray (detects deletion of chromosomes)

Treatments and therapies available:

There is no specific treatment to completely heal this disorder, but there are ways to prevent some symptoms:

• Medication
• Gastrostomy feeding tubes
• Orthopedic surgery
• Valproic acid and antiepileptic drugs (for seizures)
• Physical aids – wheel chairs, hearing aids, etc.
• Surgery

Prevalence in population:

Wolf-Hirschhorn is a rare disorder, but can occur in all ethnicities. It is said that it occurs once every 50,000 people and occurs in females twice as many as the males. The reason for this disorder being more common in females is yet unknown.

Life expectancy:

The exact life expectancy is unknown. Most people with this disorder die right away when they’re born or die after a little while they’re born. In the past, people with this disorder died right away. But now, more people tend to live longer. The oldest person to have this disorder and be still living today is said to be around 62 years old (born in 1949). 1 out of 5 children live about 2 years and the rest live between the ages of 18 and 34.