Kyphoscoliosis

Symptom Information:

Symptom ID: HPO:0002751
Synonyms:
Kyphoscoliosis [OMIM:Kyphoscoliosis]
Kyphoscoliosis (1 patient) [OMIM:Kyphoscoliosis (1 patient)]
Kyphoscoliosis (approximately 30%) [OMIM:Kyphoscoliosis (approximately 30%)]
Kyphoscoliosis (in some patients) [OMIM:Kyphoscoliosis (in some patients)]
Kyphoscoliosis (rare) [OMIM:Kyphoscoliosis (rare)]
Kyphoscoliosis (reported in 1 patient) [OMIM:Kyphoscoliosis (reported in 1 patient)]
Kyphoscoliosis [MedDRA:10023506]
Quality:
Cross references:
OMIM: "Kyphoscoliosis" [OMIM:Kyphoscoliosis]
OMIM: "Kyphoscoliosis (1 patient)" [OMIM:Kyphoscoliosis (1 patient)]
OMIM: "Kyphoscoliosis (approximately 30%)" [OMIM:Kyphoscoliosis (approximately 30%)]
OMIM: "Kyphoscoliosis (in some patients)" [OMIM:Kyphoscoliosis (in some patients)]
OMIM: "Kyphoscoliosis (rare)" [OMIM:Kyphoscoliosis (rare)]
OMIM: "Kyphoscoliosis (reported in 1 patient)" [OMIM:Kyphoscoliosis (reported in 1 patient)]
UMLS:C0600033 "Kyphoscoliosis" [HPO:0002751]
Is a (Direct Parents):
MedDRA Spine and neck deformities
HPO         Scoliosis
HPO         Kyphosis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the vertebral column(HPO:0000925)
                   Abnormality of the curvature of the vertebral column(HPO:0010674)
                      Kyphosis(HPO:0002808)
                         Kyphoscoliosis(HPO:0002751)
                      Scoliosis(HPO:0002650)
                         Kyphoscoliosis(HPO:0002751)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue deformities (incl intervertebral disc disorders)(MedDRA:10028377)
       Spine and neck deformities(MedDRA:10012140)
          Kyphoscoliosis(HPO:0002751)
Database Frequency: 131 / 7739
Resource:

All diseases associated with this symptom:

2p15p16.1 microdeletion syndrome (Orphanet:261349)
ANE syndrome (Orphanet:157954)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alström syndrome (Orphanet:64)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Aphalangy - syndactyly - microcephaly (Orphanet:1113)
Atypical progressive supranuclear palsy (Orphanet:99750)
Autosomal dominant Charcot-Marie-Tooth disease type 2K (Orphanet:99944)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Brachyolmia type 1, Toledo type (Orphanet:93303)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME (OMIM:212540)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS (OMIM:117850)
CHST3-related skeletal dysplasia (Orphanet:263463)
COFS syndrome (Orphanet:1466)
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS (OMIM:605685)
Campomelic dysplasia (Orphanet:140)
Carpenter-Waziri syndrome (Orphanet:93973)
Central core disease (Orphanet:597)
Charcot-Marie-Tooth disease type 1A (Orphanet:101081)
Charcot-Marie-Tooth disease type 1B (Orphanet:101082)
Charcot-Marie-Tooth disease type 2B1 (Orphanet:98856)
Charcot-Marie-Tooth disease type 4A (Orphanet:99948)
Charcot-Marie-Tooth disease type 4B2 (Orphanet:99956)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Classical homocystinuria (Orphanet:394)
Cold-induced sweating syndrome (Orphanet:157820)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital muscular dystrophy type 1A (Orphanet:258)
Costello syndrome (Orphanet:3071)
Dejerine-Sottas syndrome (Orphanet:64748)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diastrophic dwarfism (Orphanet:628)
Dysostosis, Stanescu type (Orphanet:1798)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Endomyocardial fibroelastosis (Orphanet:2022)
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (OMIM:227250)
Flynn-Aird syndrome (Orphanet:2047)
Freeman-Sheldon syndrome (Orphanet:2053)
Friedreich ataxia 1 (OMIM:229300)
Fucosidosis (Orphanet:349)
Gordon syndrome (Orphanet:376)
Gorlin syndrome (Orphanet:377)
HAJDU-CHENEY SYNDROME (OMIM:102500)
Holmes-Gang syndrome (Orphanet:93970)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Ichthyosis-cheek-eyebrow syndrome (Orphanet:2267)
Incontinentia pigmenti (Orphanet:464)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Joubert syndrome 18 (OMIM:614815)
Juberg-Marsidi syndrome (Orphanet:93972)
KAGAMI-OGATA SYNDROME (OMIM:608149)
LEOPARD SYNDROME 1 (OMIM:151100)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Lethal restrictive dermopathy (Orphanet:1662)
Linear nevus sebaceus syndrome (Orphanet:2612)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome type 1 (Orphanet:284963)
McDonough syndrome (Orphanet:2471)
Mevalonic aciduria (Orphanet:29)
Micro syndrome (Orphanet:2510)
Moderate multiminicore disease with hand involvement (Orphanet:178145)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NEMALINE MYOPATHY 4 (OMIM:609285)
NOONAN SYNDROME 1 (OMIM:163950)
Native American myopathy (Orphanet:168572)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Orofaciodigital syndrome type 11 (Orphanet:141000)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteoporosis - pseudoglioma (Orphanet:2788)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to AIMP1 mutation (Orphanet:280293)
Postaxial polydactyly - dental and vertebral anomalies (Orphanet:2916)
Primary basilar impression (Orphanet:2285)
Progressive pseudorheumatoid arthropathy of childhood (Orphanet:1159)
Progressive supranuclear palsy - parkinsonism (Orphanet:240085)
Proteus syndrome (Orphanet:744)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
RIENHOFF SYNDROME (OMIM:615582)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Richieri Costa-da Silva syndrome (Orphanet:3101)
Rothmund-Thomson syndrome (Orphanet:2909)
Roussy-Lévy syndrome (Orphanet:3115)
SECKEL SYNDROME 8 (OMIM:615807)
SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE (OMIM:271200)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT (OMIM:184100)
Sanfilippo syndrome type C (Orphanet:79271)
Scheie syndrome (Orphanet:93474)
Schwartz-Jampel syndrome (Orphanet:800)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia, Pakistani type (Orphanet:93282)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
TMEM165-CDG (Orphanet:314667)
Tetrasomy 12p (Orphanet:884)
Torg-Winchester syndrome (Orphanet:3460)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Williams syndrome (Orphanet:904)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet:324410)