Rare diseases · Sign or symptom
Abnormal skeletal morphology
Abnormally shaped skeletal
HP:0011842
What it means
An abnormality of the form, structure, or size of the skeletal system.
Rare diseases that can present with this22
Very common80–99%
6- Alpha-mannosidosis, infantile form
- Capillary-lymphatic-venous malformation with segmental distribution
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Rigid spine syndrome
- Spastic paraplegia-Paget disease of bone syndrome
Common30–79%
10- Alopecia-intellectual disability syndrome
- Autosomal recessive multiple pterygium syndrome
- Beta-thalassemia major
- Congenital fiber-type disproportion myopathy
- Farber disease
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Kaposiform lymphangiomatosis
- KBG syndrome
- Mucopolysaccharidosis type 3
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: Abnormality of skeletal morphology
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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.