Rare diseases · Sign or symptom
Kyphoscoliosis
HP:0002751
What it means
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Rare diseases that can present with this88
Very common80–99%
16- Autosomal dominant brachyolmia
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- CK syndrome
- De Barsy syndrome
- Dysspondyloenchondromatosis
- Kyphoscoliotic Ehlers-Danlos syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Maternal uniparental disomy of chromosome 9 syndrome
- Microcephaly-brachydactyly-kyphoscoliosis syndrome
- Paternal uniparental disomy of chromosome 5 syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Pseudoleprechaunism syndrome, Patterson type
- Richieri Costa-da Silva syndrome
- Spondylodysplastic Ehlers-Danlos syndrome
- Wrinkly skin syndrome
- X-linked intellectual disability, Snyder type
Common30–79%
26- Acrootoocular syndrome
- Allan-Herndon-Dudley syndrome
- ANE syndrome
- Atypical progressive supranuclear palsy syndrome
- Autosomal recessive spastic paraplegia type 23
- Central core disease
- Charcot-Marie-Tooth disease type 4B2
- CHST3-related skeletal dysplasia
- Deletion 5q35 syndrome
- Emanuel syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Kagami-Ogata syndrome
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Monosomy 18p syndrome
- Monosomy 18q syndrome
- Mucolipidosis type III alpha/beta
- Musculocontractural Ehlers-Danlos syndrome
- PMM2-CDG
- Roussy-Lévy syndrome
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- Tatton-Brown-Rahman syndrome
- Wiedemann-Rautenstrauch syndrome
Sometimes5–29%
38- 13q12.3microdeletion syndrome
- 19p13.3microduplication syndrome
- Abetalipoproteinemia
- Arthrochalasia Ehlers-Danlos syndrome
- Ataxia-oculomotor apraxia type 4
- Autosomal recessive spastic paraplegia type 77
- Autosomal recessive spastic paraplegia type 9B
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
and 30 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
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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.