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Rare Disease Database

Adams-Oliver syndrome 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.

Synonyms

  • AOS
  • AOS1
  • ARHGAP31 Adams-Oliver syndrome
  • Adams-Oliver syndrome 1
  • Adams-Oliver syndrome caused by mutation in ARHGAP31
  • absence defect of limbs, scalp, and skull
  • aplasia cutis congenita with terminal transverse limb defects
  • aplasia cutis congenita, congenital heart defect, and frontonasal cysts
  • congenital scalp defects with distal limb reduction anomalies
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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