osteogenesis imperfecta type 20

info · Genetic

An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.

Signs and symptoms

Delayed gross motor development
Microcephaly
Disproportionate short-limb short stature
Midface retrusion
Intrauterine growth retardation
Tented upper lip vermilion
High palate
Narrow chest
Retrognathia
Posteriorly rotated ears

Also known as: OI20; osteogenesis imperfecta type XX