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Copyright V. Ventruto / A. Di Luccio Genus database 17062 mucopolysaccharidosis IIIC Eponyms: Inheritance: acetyl CoA:alpha-glucosaminide Nacetyltransferase deficiency MPS3C Sanfilippo C syndrome autosomal recessive Semeiological Artrho-facio-gastrointestinal-neuro-respiratory disorder. Phenotype of Sanfilippo syndrome, due to alphaglucosamide N-acetyltransferase deficiency. Synthesis: Group Sub group Signs: GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies hepatomegaly, liver enlarged HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS spleen, anomalies splenomegaly, hepatosplenomegaly LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 14 localization foetal-amniotic biochemical data acetyl-CoA:alpha glucosaminide Ntransferase (foetal) glycosaminoglycans (foetal) gene, structural-functional anomalies gene analysis-DNA analysis MPS3C mucopolysaccharidosis type IIIC, gene chr.14 plasma nonprotein-organic constituents, anomalies mucopolysaccharidoses tissue, biochemical changes acetyl-CoA:alpha glucosaminide Ntransferase, low activity glycosaminoglycans storage lysosomal disorders urine, constituent changes mucopolysaccharidosuria, oligosacchariduria MUSCULAR DISEASES muscular defects, distrectual hernia, umbilical, navel NEUROLOGICAL DISORDERS brain anomalies macrocephaly, megalencephaly, macroencephaly, enlarged head mental retardation mental retardation OROCRANIOFACIAL ANOMALIES facies, modified appearance facies, coarse forehead-orbital region, changes synophrys, eyebrows meeting across the midline oral mucous membranes,changes gingival hyperplasia, gum hypertrophy, broad alveolar ridge teeth, modified structures teeth, irregular placement, malocclusion, malaligned mucopolysaccharidosis IIIC Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, metabolic SKELETAL DISORDERS epiphyseal changes epiphyseal anomalies not including: stippling frayed, cone shaped epiphyseal stippling hip, anomalies acetabulum, anomalous, including protrusion metaphyseal changes metaphyseal changes not including: dum belllike erlenmeyer-like shaped stature, growth, modified habitus stature, short, including micromelia, including short limbs stature, tall Super group: neuro-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS lysosomal disorders OTHER mucopolysaccharidoses Differential diagnosis: Bibliography mucopolysaccharidosis IIIC 17061 mucopolysaccharidosis IIIB 17063 mucopolysaccharidosis IIID OMIM ID: 252930 Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.169-170 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 586 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.24082409,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.747766,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.2405,2007 Page 2 of 2
