Acrofacial Dysostosis Catania Type Overview
Learn About Acrofacial Dysostosis Catania Type
Condition 101 content is not available at this time, but we are continually updating the site. Please check back.
However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Kathryn Weaver is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Weaver is rated as an Elite provider by MediFind in the treatment of Acrofacial Dysostosis Catania Type. Her top areas of expertise are Acrofacial Dysostosis Catania Type, RASopathies, Costello Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.
Debora Bertola practices in Sao Paulo, Brazil. Ms. Bertola is rated as an Elite expert by MediFind in the treatment of Acrofacial Dysostosis Catania Type. Her top areas of expertise are RASopathies, Noonan Syndrome, Acrofacial Dysostosis Catania Type, Spondyloepimetaphyseal Dysplasia Strudwick Type, and Osteotomy.
Howard Saal is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Saal is rated as an Elite provider by MediFind in the treatment of Acrofacial Dysostosis Catania Type. His top areas of expertise are Achondroplasia, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, and Acrofacial Dysostosis Catania Type.
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers...