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Adams-Oliver syndrome

Orpha number ORPHA974
Synonym(s) AOS
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
Limb, scalp and skull defects
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q87.2
ICD-O -
OMIM
UMLS
  • C0265268
MeSH
  • C538225
MedDRA -

Summary

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. The prevalence is unknown. The severity of the disorder varies greatly among affected individuals. Aplasia cutis congenita, transverse limb defects and cutis marmorata telangiectica are characteristic of this condition. The affected patients typically have malformations of the hands, arms, feet and/or legs that range from hypoplastic fingers and toes to absent hands and/or lower legs, and occasionally show intellectual deficit. AOS may be associated with a variety of physical anomalies including congenital cataract, strabismus and microphthalmia, congenital heart malformations (including tetralogy of Fallot and pulmonary atresia), and hepatoportal sclerosis. Hydrocephalus is the principal cerebral feature and epilepsy may be associated. Extensive lethal anomalies are possible. The etiopathogenesis remains unclear. Most cases are transmitted as an autosomal dominant trait, but some show autosomal recessive transmission with familial or sporadic occurrence. Limb and scalp defects require orthopedic treatment. Management requires a comprehensive multidisciplinary approach.

Expert reviewer(s)

  • Dr Martine LE MERRER

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