Acrofacial dysostosis, Catania type

MONDO:0007045

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.

Also known as: Opitz-Caltabiano syndrome, acrofacial dysostosis, Catania type, AFD Catania type, Afd, Catania type, acrofacial dysostosis Catania type

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