Table 7.

Other Genetic Disorders of Interest in the Differential Diagnosis of COL1A1/2 Osteogenesis Imperfecta

GeneDifferential
Diagnosis
Disorder 1		MOIClinical Features of the Differential Diagnosis Disorder
Overlapping w/COL1A1/2-OINot observed in COL1A1/2-OI
ANO5 Gnathodiaphyseal dysplasia (OMIM 166260)ADOsteopenia & bone fragilityEnlarged jaw; osteomyelitis
DSPP Dentinogenesis imperfecta (OMIM 125490)ADDIPrimary teeth more impacted than secondary teeth
GORAB Gerodermia osteodysplastica (OMIM 231070)AROsteopenia & bone fragilityMicrocephaly; premature aged facial appearance; camptodactyly; intellectual disability
LRP5 Osteoporosis pseudoglioma syndrome (OMIM 259770)AROsteopenia & bone fragilityMicrocephaly; pseudoglioma; cataracts; blindness; congenital heart defect
NOTCH2 Hadju-Cheney syndrome (OMIM 102500)ADOsteopenia & bone fragilityCoarse facial appearance; early tooth loss; congenital heart defect; male hypospadias/cryptorchidism; renal cysts
P4HB Cole-Carpenter syndrome 1 (OMIM 112240)ADEnamel hypoplasia; osteopenia & fracturesMidface hypoplasia; frontal bossing; proptosis; pseudoclubbing; acroosteolysis

AD = autosomal dominant; MOI = mode of inheritance

1.

From: COL1A1/2 Osteogenesis Imperfecta

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