Rare diseases · Sign or symptom
Osteopenia
HP:0000938
What it means
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Rare diseases that can present with this140
Very common80–99%
31- Aromatase deficiency
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Brachydactylous dwarfism, Mseleni type
- Chondroectodermal dysplasia with night blindness
- Classical-like Ehlers-Danlos syndrome type 2
- Craniometadiaphyseal dysplasia, wormian bone type
- DDOST-CDG
- De Barsy syndrome
- Estrogen resistance syndrome
- Familial isolated hyperparathyroidism
- FGFR2-related bent bone dysplasia
- Gaucher disease type 1
- Global developmental delay-osteopenia-ectodermal defect syndrome
- Hajdu-Cheney syndrome
- Infantile systemic hyalinosis
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Lipodystrophy-intellectual disability-deafness syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Multicentric osteolysis-nodulosis-arthropathy spectrum
- Multiple myeloma
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Progeria-short stature-pigmented nevi syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Restrictive dermopathy
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Woodhouse-Sakati syndrome
- Wrinkly skin syndrome
Common30–79%
44- 46,XX gonadal dysgenesis
- ALG3-CDG
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Camptodactyly syndrome, Guadalajara type 3
- Cerebrofacioarticular syndrome
- Chronic visceral acid sphingomyelinase deficiency
- Classical Ehlers-Danlos syndrome
- COG1-CDG
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Combined pituitary hormone deficiencies, genetic forms
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Gaucher disease
- Gaucher disease type 3
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Gnathodiaphyseal dysplasia
- Gorham-Stout disease
- Idiopathic hypercalciuria
- Kallmann syndrome-heart disease syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Lysinuric protein intolerance
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Metaphyseal chondrodysplasia, Jansen type
- Mucolipidosis type III
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- Normosmic congenital hypogonadotropic hypogonadism
- Occipital horn syndrome
- Osteochondritis dissecans
- Osteogenesis imperfecta
- Osteopenia-intellectual disability-sparse hair syndrome
- Osteoporosis-pseudoglioma syndrome
- Pantothenate kinase-associated neurodegeneration
- Phenylketonuria
- PMM2-CDG
- Prader-Willi syndrome
- Prolactinoma
- RHYNS syndrome
- SATB2-associated syndrome due to a pathogenic variant
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- Spondylodysplastic Ehlers-Danlos syndrome
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Stüve-Wiedemann syndrome
- TSH-secreting pituitary adenoma
- Wiedemann-Rautenstrauch syndrome
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
Also called: Generalised osteopenia · Generalized osteopenia · Osteopaenia
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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.