Angelman Syndrome

Question 1

What is Angelman Syndrome?

Answer 1

Angelman Syndrome is an imprinting disorder affecting the UBE3A gene at 15q11. The changes are reciprocal to those seen in Prader-Willi Syndrome.

Reference: The Science of Paediatrics [1st Edition], p. 155.

Question 2

How does Angelman Syndrome present?

Answer 2

Angelman Syndrome presents with:

Severe developmental delay

Ataxia

Happy disposition

Wide mouth

Microcephaly

Seizures

Fair skin and hair

Hypotonia

Feeding difficulties

Gastro-oesophageal reflux

Reference: The Science of Paediatrics [1st Edition], p. 155; Nelson’s Paediatrics [20th Edition], p.619.

Image Source: Science Direct