Rare diseases · Sign or symptom
Abnormality of the skeletal system
Skeletal abnormalities
HP:0000924
What it means
An abnormality of the skeletal system.
Rare diseases that can present with this69
Very common80–99%
20- 7p22.1microduplication syndrome
- Axial mesodermal dysplasia spectrum
- Beta-thalassemia
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital pseudoarthrosis of the clavicle
- Dermochondrocorneal dystrophy
- Feingold syndrome type 2
- GM1 gangliosidosis type 1
- Hurler syndrome
- Mandibuloacral dysplasia with type B lipodystrophy
- Melorheostosis
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
- RHYNS syndrome
- Satoyoshi syndrome
- Scheie syndrome
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- Shwachman-Diamond syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- SLC35A2-CDG
Common30–79%
18- ALG1-CDG
- Autosomal recessive spastic paraplegia type 20
- Bainbridge-Ropers syndrome
- Beta-thalassemia intermedia
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Cono-spondylar dysplasia
- Gaucher disease
- GM1 gangliosidosis
- Hereditary hypophosphatemic rickets with hypercalciuria
- Holoprosencephaly-caudal dysgenesis syndrome
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Rothmund-Thomson syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- SIN3-related intellectual disability syndrome due to a point mutation
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Trisomy 10p syndrome
Sometimes5–29%
31- ALG6-CDG
- Alobar holoprosencephaly
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Aplasia cutis-myopia syndrome
- Cutaneous mastocytosis-deafness-microtia syndrome
- Diffuse alveolar hemorrhage
- Dysmorphism-short stature-deafness-difference of sex development syndrome
- Ellis-Van Creveld syndrome
and 23 more in this range
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: Skeletal anomalies
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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.