Acrofrontofacionasal dysostosis

What is Acrofrontofacionasal dysostosis?

A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

Other condition names

  • Richieri-Costa-Colletto syndrome

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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