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

1 clinical trial for this condition and its sub-types, 0 tagged with Acrofacial dysostosis, Catania type itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Acrofacial dysostosis (1)

Including sub-types (1) Tagged with Acrofacial dysostosis, Catania type (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.