Rare diseases · Sign or symptom
Skeletal dysplasia
HP:0002652
What it means
A general term describing features characterized by abnormal development of bones and connective tissues.
The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities.
Rare diseases that can present with this83
Very common80–99%
51- Achondrogenesis
- Acrocapitofemoral dysplasia
- Acromesomelic dysplasia, Grebe type
- Adult Refsum disease
- Alpha-mannosidosis
- Aminopterin/methotrexate embryofetopathy
- Autosomal recessive hypophosphatemic rickets
- Baraitser-Winter cerebrofrontofacial syndrome
- Campomelia, Cumming type
- Camurati-Engelmann disease
- Cardiomyopathy-cataract-hip spine disease syndrome
- Cartilage-hair hypoplasia
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cleidocranial dysplasia
- Cole-Carpenter syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniolenticulosutural dysplasia
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Frontometaphyseal dysplasia
- Galactosialidosis
- Hajdu-Cheney syndrome
- Hurler-Scheie syndrome
- Hurler syndrome
- Hypochondroplasia
- Jeune syndrome
- Larsen-like osseous dysplasia-short stature syndrome
- Melorheostosis
- Mesomelia-synostoses syndrome
- Mesomelic dysplasia, Savarirayan type
- Metatropic dysplasia
- Multiple epiphyseal dysplasia type 4
- Nager syndrome
- Nasu-Hakola disease
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- Platyspondylic dysplasia, Torrance type
- Proteus syndrome
- Schwartz-Jampel syndrome
- Sialidosis type 1
- Skeletal dysplasia-epilepsy-short stature syndrome
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
- Stickler syndrome
- Stickler syndrome type 1
- Stüve-Wiedemann syndrome
- Thanatophoric dysplasia
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Treacher-Collins syndrome
- Wolcott-Rallison syndrome
- Zellweger syndrome
Common30–79%
16- Achondrogenesis type 2
- ALG9-CDG
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Cantú syndrome
- CINCA syndrome
- Craniometaphyseal dysplasia
- Dyggve-Melchior-Clausen disease
- Free sialic acid storage disease
- GM1 gangliosidosis
- GM1 gangliosidosis type 1
- Metaphyseal dysplasia, Braun-Tinschert type
- Neurofibromatosis type 1
- Pallister-Hall syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- RHYNS syndrome
- Ring chromosome 13 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: Abnormal skeletal development
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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.