Biomaterial Database

[Familial appearance of infantile cortical hyperostosis (Caffey-Silverman syndrome)]. 1961

R FAUL

UI	MeSH Term	Description	Entries
D006958	Hyperostosis, Cortical, Congenital	A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)	Caffey-De Toni-Silvermann Syndrome,Cortical Hyperostosis, Congenital,Infantile Cortical Hyperostosis,Caffey Disease,Congenital Hyperostosis, Cortical,Cortical Congenital Hyperostosis,Familial Caffey's Disease,Familial Infantile Cortical Hyperostosis,Caffey De Toni Silvermann Syndrome,Caffey's Disease, Familial,Congenital Cortical Hyperostoses,Congenital Cortical Hyperostosis,Congenital Hyperostoses, Cortical,Cortical Congenital Hyperostoses,Cortical Hyperostoses, Congenital,Cortical Hyperostoses, Infantile,Cortical Hyperostosis, Infantile,Disease, Caffey,Disease, Familial Caffey's,Familial Caffey Disease,Familial Caffeys Disease,Hyperostoses, Congenital Cortical,Hyperostoses, Cortical Congenital,Hyperostoses, Infantile Cortical,Hyperostosis, Congenital Cortical,Hyperostosis, Cortical Congenital,Hyperostosis, Infantile Cortical,Infantile Cortical Hyperostoses,Syndrome, Caffey-De Toni-Silvermann
D005096	Exostoses	Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component.	Exostosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016537	Gangliosidosis, GM1	An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)	G(M1) Gangliosidosis,Adult GM1 Gangliosidosis,Beta-Galactosidase-1 (GLB1) Deficiency,Beta-Galactosidase-1 Deficiency Disease,Beta-Galactosidosis,GLB1 Deficiency,GM1 Gangliosidosis,GM1-Gangliosidosis, Type I,GM1-Gangliosidosis, Type II,GM1-Gangliosidosis, Type III,Gangliosidosis G(M1),Gangliosidosis GM1,Gangliosidosis GM1 Type 3,Gangliosidosis GM1, Adult,Gangliosidosis GM1, Infantile,Gangliosidosis GM1, Juvenile,Gangliosidosis GM1, Type 1,Gangliosidosis GM1, Type 2,Gangliosidosis GM1, Type 3,Gangliosidosis Generalized GM1, Type 1,Gangliosidosis, Generalized GM1 Type 2,Gangliosidosis, Generalized GM1, Adult Type,Gangliosidosis, Generalized GM1, Chronic Type,Gangliosidosis, Generalized GM1, Infantile Form,Gangliosidosis, Generalized GM1, Juvenile Type,Gangliosidosis, Generalized GM1, Type 1,Gangliosidosis, Generalized GM1, Type 2,Gangliosidosis, Generalized GM1, Type 3,Gangliosidosis, Generalized GM1, Type I,Gangliosidosis, Generalized GM1, Type II,Gangliosidosis, Generalized GM1, Type III,Generalized Gangliosidosis,Type 3 (Adult) GM1 Gangliosidosis,beta Galactosidase 1 Deficiency,beta Galactosidase Deficiency,beta-Galactosidase Deficiency,beta-Galactosidase-1 Deficiency,Beta Galactosidase 1 Deficiency Disease,Beta Galactosidosis,Deficiencies, GLB1,Deficiency, GLB1,Deficiency, beta Galactosidase,Deficiency, beta-Galactosidase,Deficiency, beta-Galactosidase-1,GM1 Gangliosidosis, Adult,GM1 Gangliosidosis, Type I,GM1 Gangliosidosis, Type II,GM1 Gangliosidosis, Type III,GM1-Gangliosidoses, Type I,GM1-Gangliosidoses, Type II,GM1-Gangliosidoses, Type III,Gangliosidosis, Adult GM1,Infantile Gangliosidosis GM1,Juvenile Gangliosidosis GM1,Type I GM1-Gangliosidoses,Type I GM1-Gangliosidosis,Type II GM1-Gangliosidoses,Type II GM1-Gangliosidosis,Type III GM1-Gangliosidoses,Type III GM1-Gangliosidosis