Osteogenesis Imperfecta Type XIX

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.

**Synonyms:** - OI19 - Osteogenesis Imperfecta 19