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acrofacial dysostosis, Catania type

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0007045:  acrofacial dysostosis, Catania type
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Disease Hierarchy
Target Novelty (Tin-x)
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