Angelman syndrome

Description

Angelman syndrome is a neurogenetic disorder characterised by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioural (outbursts of laughter with hand flapping, a happy demeanour, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures).

Index terms

Angelman syndrome

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD90.1 – Early-onset parkinsonism - intellectual deficit
LD90.2 – Pelizaeus-Merzbacher-like disease
LD90.3 – Prader-Willi syndrome
LD90.4 – Rett syndrome
LD90.Y – Other specified conditions with disorders of intellectual development as a relevant clinical feature
LD90.Z – Conditions with disorders of intellectual development as a relevant clinical feature, unspecified

Foundation entity

Angelman syndrome – http://id.who.int/icd/entity/1106558408

Part of: LD90: Conditions with disorders of intellectual development as a relevant clinical feature › 20: Developmental anomalies