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Severe generalized osteoporosis

MedGen UID:
Concept ID:
Disease or Syndrome; Finding
Synonyms: Osteoporosis, severe; Severe osteoporosis; Severe, generalized osteoporosis
HPO: HP:0005897


Severe degree of osteoporosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere generalized osteoporosis

Conditions with this feature

Osteogenesis imperfecta type III
MedGen UID:
Concept ID:
Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Microcephalic osteodysplastic primordial dwarfism, type 3
MedGen UID:
Concept ID:
Disease or Syndrome

Professional guidelines


Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Front Endocrinol (Lausanne) 2021;12:641543. Epub 2021 Mar 19 doi: 10.3389/fendo.2021.641543. PMID: 33815294Free PMC Article
Cushing K, Higgins PDR
JAMA 2021 Jan 5;325(1):69-80. doi: 10.1001/jama.2020.18936. PMID: 33399844Free PMC Article
Ceccato F, Boscaro M
High Blood Press Cardiovasc Prev 2016 Sep;23(3):209-15. Epub 2016 May 9 doi: 10.1007/s40292-016-0153-4. PMID: 27160717

Recent clinical studies


McKiernan FE
Osteoporos Int 2007 Feb;18(2):245-9. Epub 2006 Nov 14 doi: 10.1007/s00198-006-0221-z. PMID: 17103298

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