Rare diseases · Sign or symptom
Kyphosis
Hunched back
HP:0002808
What it means
Exaggerated anterior convexity of the thoracic vertebral column.
Rare diseases that can present with this185
Very common80–99%
27- Achondroplasia
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Coffin-Lowry syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Crisponi syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Developmental malformations-deafness-dystonia syndrome
- Difference of sex development-intellectual disability syndrome
- Familial osteodysplasia, Anderson type
- Fucosidosis
- Horizontal gaze palsy with progressive scoliosis
- Hydrocephaly-tall stature-joint laxity syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- McDonough syndrome
- Metatropic dysplasia
- Microcephalic primordial dwarfism, Montreal type
- Microcephaly-cervical spine fusion anomalies syndrome
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Pelizaeus-Merzbacher disease
- Progressive non-infectious anterior vertebral fusion
- Proteus syndrome
- Ruvalcaba syndrome
- Sandhoff disease
- Sialidosis type 2
- Skeletal dysplasia-epilepsy-short stature syndrome
- Ullrich congenital muscular dystrophy
Common30–79%
53- 3C syndrome
- Acromegaly
- Acromesomelic dysplasia, Maroteaux type
- Alexander disease
- Alpha-mannosidosis
- Alström syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Autosomal recessive Robinow syndrome
- Autosomal recessive spastic paraplegia type 53
- Autosomal recessive spondylocostal dysostosis
- Bruck syndrome
- Cerebrocostomandibular syndrome
- Cole-Carpenter syndrome
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Cono-spondylar dysplasia
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Diastrophic dysplasia
- Ectodermal dysplasia-sensorineural deafness syndrome
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Flynn-Aird syndrome
- Focal dermal hypoplasia
- FOXG1 syndrome due to 14q12 microdeletion
- Frank-Ter Haar syndrome
- Harrod syndrome
- Heart defects-limb shortening syndrome
- Holt-Oram syndrome
- Homocystinuria due to cystathionine beta-synthase deficiency
- Marden-Walker syndrome
- Megalocornea-intellectual disability syndrome
- MEND syndrome
- Micro syndrome
- Mitochondrial myopathy and sideroblastic anemia
- Monosomy 9q22.3 syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Mucopolysaccharidosis type 4
- Mucopolysaccharidosis type 6
- Osteomesopyknosis
- PLAA-associated neurodevelopmental disorder
- Postaxial polydactyly-dental and vertebral anomalies syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Rhizomelic syndrome, Urbach type
- Schaaf-Yang syndrome
- Schwartz-Jampel syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Somatomammotropinoma
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spondyloepiphyseal dysplasia congenita
- Stickler syndrome
- Subaortic stenosis-short stature syndrome
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
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: Gibbus deformity · Hyperkyphosis · Round back
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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.