Rare diseases · Sign or symptom
Scoliosis
HP:0002650
What it means
The presence of an abnormal lateral curvature of the spine.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this590
Very common80–99%
72- 49,XYYYY syndrome
- Aase-Smith syndrome type 1
- Absence deformity of leg-cataract syndrome
- Acrodysplasia scoliosis
- Alexander disease
- AREDYLD syndrome
- Aspartylglucosaminuria
- Autosomal dominant spondylocostal dysostosis
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive spondylocostal dysostosis
- Axial mesodermal dysplasia spectrum
- Blindness-scoliosis-arachnodactyly syndrome
- Brachyolmia, Maroteaux type
- Campomelic dysplasia
- Camptodactyly-joint contractures-facial skeletal defects syndrome
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- Cartilage-hair hypoplasia
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cerebellar-facial-dental syndrome
- CHST3-related skeletal dysplasia
- Coffin-Lowry syndrome
- Congenital contractural arachnodactyly
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniolenticulosutural dysplasia
- Crisponi syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Dermatoosteolysis, Kirghizian type
- Developmental malformations-deafness-dystonia syndrome
- Diastrophic dysplasia
- Duchenne muscular dystrophy
- Dysspondyloenchondromatosis
- Epilepsy-microcephaly-skeletal dysplasia syndrome
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Familial osteodysplasia, Anderson type
- Freeman-Sheldon syndrome
- Frontometaphyseal dysplasia
- Fryns-Smeets-Thiry syndrome
- Horizontal gaze palsy with progressive scoliosis
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Isolated hemihyperplasia
- Larsen-like osseous dysplasia-short stature syndrome
- Lujan-Fryns syndrome
- Maternal uniparental disomy of chromosome X syndrome
- McDonough syndrome
- Metatropic dysplasia
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephalic primordial dwarfism, Montreal type
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 7
- Multiple epiphyseal dysplasia, Lowry type
- Multiple pterygium-malignant hyperthermia syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Omphalocele syndrome, Shprintzen-Goldberg type
- Pelizaeus-Merzbacher disease
- Periventricular nodular heterotopia
- Progressive non-infectious anterior vertebral fusion
- Proteus syndrome
- Pseudodiastrophic dysplasia
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Rhizomelic chondrodysplasia punctata
- Rigid spine syndrome
- RIN2 syndrome
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Sheldon-Hall syndrome
- SHOX-related short stature
- Sialidosis type 1
- Skeletal dysplasia-epilepsy-short stature syndrome
- Spondylocamptodactyly syndrome
- Spondyloepiphyseal dysplasia congenita
- Trisomy 5p syndrome
- X-linked skeletal dysplasia-intellectual disability 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: Cobb angle greater than ten degrees
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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.