Rare diseases · Sign or symptom
Osteoporosis
HP:0000939
What it means
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this135
Very common80–99%
37- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 46,XY partial gonadal dysgenesis
- Aromatase deficiency
- Atypical Werner syndrome
- Beta-thalassemia intermedia
- Bruck syndrome
- Chondroectodermal dysplasia with night blindness
- Cranioectodermal dysplasia
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- Dermatosparaxis Ehlers-Danlos syndrome
- Estrogen resistance syndrome
- Gaucher disease type 1
- Geroderma osteodysplastica
- Hajdu-Cheney syndrome
- Homocystinuria due to cystathionine beta-synthase deficiency
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Idiopathic juvenile osteoporosis
- Infantile systemic hyalinosis
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Juvenile Paget disease
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Multicentric osteolysis-nodulosis-arthropathy spectrum
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Osteoporosis-pseudoglioma syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Spondylo-ocular syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Urban-Rogers-Meyer syndrome
- Werner syndrome
- Xp21deletion syndrome
- X small rings syndrome
Common30–79%
41- Aggressive systemic mastocytosis
- Amish lethal microcephaly
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Beta-thalassemia major
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- Cantú syndrome
- Cerebrotendinous xanthomatosis
- Chronic visceral acid sphingomyelinase deficiency
- Cleidocranial dysplasia
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Cushing disease
- Cushing syndrome due to bilateral macronodular adrenocortical disease
- Cushing syndrome due to ectopic ACTH secretion
- Extensor tendons of finger anomalies
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hyperparathyroidism-jaw tumor syndrome
- Indolent systemic mastocytosis
- Isolated glycerol kinase deficiency
- Kallmann syndrome-heart disease syndrome
- Lysinuric protein intolerance
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- Normosmic congenital hypogonadotropic hypogonadism
- Occipital horn syndrome
- Osteogenesis imperfecta
- Parathyroid carcinoma
- PMM2-CDG
- Prader-Willi syndrome
- Prolactinoma
- Schwartz-Jampel syndrome
- Sialidosis type 2
- Sickle cell anemia
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondyloepiphyseal dysplasia congenita
- Stüve-Wiedemann syndrome
- TSH-secreting pituitary adenoma
- Wilson disease
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- X-linked intellectual disability, Snyder type
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.