Acrofacial dysostosis, Catania type

From BugSigDB


Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.
Aliases
  • acrofacial dysostosis Catania type
  • acrofacial dysostosis, Catania type
  • acrofacial dysostosis, Catania type
  • AFD Catania type
  • Afd, Catania type
  • Opitz Mollica Sorge syndrome
  • Opitz-Caltabiano syndrome