Wolf-Hirschhorn syndrome

Question 1

What are the symptoms of Wolf-Hirschhorn syndrome?

Answer 1

80-99% of people have these symptoms:

• Dolichocephaly (long narrow head)
• Down-slanted palpebral fissures (downward slanting of the opening between eyes)
• Epicanthus (eye folds)
• small gestational age
• micrognathia (little lower jaw)
• microatia (small ears)

30-79% of people have these symptoms:

• aplasia/hypoplasia of the lungs (absent/small lungs)
• cleft upper lip
• short stature
• nystagmus (involuntary, rapid, rhythmic eye movements)
• proptosis (bulging eye)
• scoliosis
• hearing impairment

Question 2

What gene is involved in Wolf-Hirschhorn syndrome?

Answer 2

Missing piece of the short (p) arm of chromosome 4 (4p-)

Question 3

What is the inheritance pattern for Wolf-Hirschhorn syndrome?

Answer 3

Autosomal dominant

Question 4

What is the phenotype of the heterozygous in Wolf-Hirschhorn syndrome?

Answer 4

The heterozygous will display the symptoms