1. Genetic Defect

• deletion of some of the genetic material of the short arm of chromosome 4
• deletion of band 4p16 is required for full phenotypic expression
• also referred to as Wolf-Hirschhorn Syndrome

1. Facial Dysmorphic Features

• microcephaly
• midline scalp defect
• hemangioma of the forehead
• hypertelorism
• downward, slanting palpebral fissures
• epicanthus
• strabismus
• colobomata
• low-set, simple ears
• preauricular dimples
• broad or beaked nose
• cleft lip, palate, and/or uvula
• carp-like mouth
• micrognathia

2. Neurological Manifestations

• profound mental retardation
• severe psychomotor retardation
• weak cry in infancy
• seizures

3. Renal Manifestations

• hypospadias
• hypoplastic Mullerian derivatives

4. Other Manifestations

• low birthweight (mean = 2,015 gm)
• postnatal growth retardation
• underdeveloped dermal ridges and low ridge count

1. Skeletal X-Rays

• delayed ossification of the carpal bones and pelvis

1. Supportive

• no treatment for underlying disorder
• multidisciplinary approach:
  • Paediatrics, Neurology, Urology
  • genetic counselling

2. Prognosis

• stillbirths, perinatal deaths and death within the first year of life are not unexpected
• if survive infancy, average lifespan unknown
• seizures may be very difficult to control
• recurrence negligible unless a parent is a translocation carrier

Wolf-Hirschhorn Syndrome