Osteogenesis imperfecta type XVII is associated with mutation in the SPARC gene. It is characterised by short stature, joint laxity, scoliosis, and mild dysmorphic features.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
5q33.1
Osteogenesis imperfecta type XVII is associated with mutation in the SPARC gene. It is characterised by short stature, joint laxity, scoliosis, and mild dysmorphic features.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616507.1.1 | Sudan | Male | Yes | Yes | Scoliosis; Short stature; Abnormal facia... Scoliosis; Short stature; Abnormal facial shape; Pectus excavatum; Joint hypermobility; Osteoporosis; Blue sclerae  | NM_003118.4:c.57+1G>C | Homozygous | Autosomal, Recessive | Alazami et al, 2016 | |
| 616507.1.2 | Sudan | Female | Yes | Yes | Scoliosis; Short stature; Abnormal facia... Scoliosis; Short stature; Abnormal facial shape; Joint hypermobility; Blue sclerae | NM_003118.4:c.57+1G>C | Homozygous | Autosomal, Recessive | Alazami et al, 2016 | Sister of 616507.1.1 |