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ENAcrofacial Dysostosis, Catania Type
Alias:
Opitz-Caltabiano Syndrome
Acrofacial Dysostosis Catania Form
Opitz Mollica Sorge Syndrome
Afd, Catania Type
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Acrofacial Dysostosis, Catania Type, also known as opitz-caltabiano syndrome, is related to chromosome 16p13.3 deletion syndrome, proximal and leptin deficiency or dysfunction. An important gene associated with Acrofacial Dysostosis, Catania Type is ANKRD11 (Ankyrin Repeat Domain Containing 11), and among its related pathways/superpathways are NF-KappaB Family Pathway and G-protein signaling RAC1 in cellular process. Affiliated tissues include bone, and related phenotypes are abnormality of the dentition and carious teeth
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MALACARDS
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