acrofacial dysostosis, Catania type

An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.

Signs and symptoms

• Cerebellar vermis hypoplasia
• Downslanted palpebral fissures
• Short stature
• Hypoplasia of the corpus callosum
• Brachydactyly
• Cerebral cortical atrophy
• Spina bifida occulta
• Malar flattening
• Enlarged cisterna magna
• Single transverse palmar crease

Also known as: Opitz Mollica Sorge syndrome; Opitz-Caltabiano syndrome