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A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.
ORPHA:974Classification level: Disorder
- 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 or Autosomal recessive
- Age of onset: Neonatal
- ICD-10: Q87.2
- OMIM: 100300 614219 614814 615297 616028 616589
- UMLS: C0265268
- MeSH: C538225
- GARD: 5739
- MedDRA: -
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.
Management and treatment
Limb and scalp defects require orthopedic treatment. Management requires a comprehensive multidisciplinary approach.
- Clinical genetics review
- English (2016)