EXOSTOSES, MULTIPLE, TYPE I Alternative titles MULTIPLE CARTILAGINOUS EXOSTOSES DIAPHYSEAL ACLASIS MULTIPLE OSTEOCHONDROMATOSIS Gene map locus 8q24.11-q24.13 multiple exostoses type I is caused by mutation in the gene encoding exostosin-1 (EXT1; 608177), which maps to chromosome 8q24. Multiple exostoses type II (133701) is caused by mutation in the gene encoding exostosin-2 (EXT2; 608210), on chromosome...

#241510 HYPOPHOSPHATASIA, CHILDHOOD Gene map locus 1p36.1-p34 childhood hypophosphatasia is caused by mutation in the ALPL gene (171760). As indicated in 241500, at least 2 varieties of recessive hypophosphatasia occur, i.e., the severe infantile (congenital) and the relatively mild childhood forms; the 2 forms are probably allelic (Henthorn et al., 1992). See...

#259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE Alternative titles; OSTEOGENESIS IMPERFECTA, TYPE III OI, TYPE III Gene map locus 17q21.31-q22, 7q22.1

CAMURATI-ENGELMANN DISEASE Alternative titles; CED ENGELMANN DISEASE DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1 PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD Gene map locus 19q13.1 Camurati-Engelmann disease results from domain-specific mutations in the transforming growth factor-beta-1 gene (TGFB1; 190180). Also see Camurati-Engelmann disease type II (606631) in which no mutation in the TGFB1 gene has been found. CLINICAL FEATURES Camurati (1922)...

#259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE Alternative titles; OPTB1 MARBLE BONES, AUTOSOMAL RECESSIVE ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE Gene map locus 16p13, 11q13.4-q13.5, 6q21 a subset of autosomal recessive osteopetrosis is caused by mutation in the TCIRG1 subunit (604592) of the vacuolar proton pump. Autosomal recessive infantile malignant osteopetrosis can also result from mutations in the CLCN7 gene...

#241500 HYPOPHOSPHATASIA, INFANTILE Alternative titles; symbols HOPS PHOSPHOETHANOLAMINURIA Gene map locus 1p36.1-p34 CONTRIBUTORS Cassandra L. Kniffin - updated : 8/11/2004 Ada Hamosh - updated : 9/22/2003 Victor A. McKusick - updated : 10/14/1998

Alternative titles OI, TYPE IV OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE Gene map locus 17q21.31-q22 TEXT A number sign (#) is used with this entry because osteogenesis imperfecta type IV can be caused by mutation in the COL1A1 gene (120150) or the COL1A2 gene (120160). DESCRIPTION Osteogenesis imperfecta (OI) is a connective tissue disorder that is...

TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Alternative titles; symbols LANGER-GIEDION SYNDROME; LGS Gene map locus 8q24.11-q24.13 TEXT A number sign (#) is used with this entry because trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a contiguous gene syndrome involving loss of functional copies of the TRPS1 (604386) and EXT1...

#166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; OPTA2 Alternative titles; MARBLE BONES, AUTOSOMAL DOMINANT OSTEOSCLEROSIS FRAGILIS GENERALISATA ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT Gene map locus 16p13 autosomal dominant osteopetrosis type II can result from mutation in the CLCN7 gene (602727). DESCRIPTION Autosomal dominant osteopetrosis type II is characterized by sclerosis, predominantly involving the spine, the pelvis, and the...

J Clin Invest. 2005 May 2; 115(5): 1142¨C1144Caffey disease: an unlikely collagenopathy Francis H. Glorieux Departments of Surgery, Pediatrics, and Human Genetics, McGill University, and Genetics Unit, Shriners Hospital for Children, Montr¨¦al, Quebec, Canada. Infantile cortical hyperostosis (also known as Caffey disease) is characterized by hyperirritability, acute inflammation of soft tissues, and profound...

#166700 BUSCHKE-OLLENDORFF SYNDROME Alternative titles; BOS DERMATOOSTEOPOIKILOSIS DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED Gene map locus 12q14 A number sign (#) is used with this entry because of evidence that osteopoikilosis with or without the skin manifestations of Buschke-Ollendorff syndrome and with or without melorheostosis (155950) can be...