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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
GARD:0000494: 
MESH:C538182: 
Orphanet:1786: 
SCTID:720419000: 
UMLS:C2931762: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found