Platyspondyly

Symptom Information:

Symptom ID: HPO:0000926
Synonyms:
Flat vertebral bodies [HPO:0000926]
Flattened vertebrae [HPO:0000926]
Flattened vertebral bodies [HPO:0000926]
Platyspondylia [HPO:0000926]
Platyspondylia (disorder) [Orphanet:16300]
Platyspondylia [Orphanet:16300]
Flat vertebral bodies [OMIM:Flat vertebral bodies]
Flattened vertebrae [OMIM:Flattened vertebrae]
Flattened vertebral bodies [OMIM:Flattened vertebral bodies]
Platyspondyly [OMIM:Platyspondyly]
Platyspondyly [Orphanet:16300]
Platyspondylia [MedDRA:10068629]
Platyspondyly (early childhood) [OMIM:Platyspondyly (early childhood)]
Platyspondyly (infancy) [OMIM:Platyspondyly (infancy)]
Platyspondyly (neonate) [OMIM:Platyspondyly (neonate)]
Platyspondyly (thoracic vertebrae) [OMIM:Platyspondyly (thoracic vertebrae)]
Quality:
Cross references:
HPO:0004565 "Severe platyspondyly" [Orphanet:16300]
Orphanet:16300 "Platyspondyly" [Orphanet:16300]
OMIM: "Flat vertebral bodies" [OMIM:Flat vertebral bodies]
OMIM: "Flattened vertebrae" [OMIM:Flattened vertebrae]
OMIM: "Flattened vertebral bodies" [OMIM:Flattened vertebral bodies]
OMIM: "Platyspondyly" [OMIM:Platyspondyly]
OMIM: "Platyspondyly (early childhood)" [OMIM:Platyspondyly (early childhood)]
OMIM: "Platyspondyly (infancy)" [OMIM:Platyspondyly (infancy)]
OMIM: "Platyspondyly (neonate)" [OMIM:Platyspondyly (neonate)]
OMIM: "Platyspondyly (thoracic vertebrae)" [OMIM:Platyspondyly (thoracic vertebrae)]
UMLS:C0265679 "Platyspondylia" [HPO:0000926]
UMLS:C1865023 "Platyspondyly" [HPO:0000926]
UMLS:C0265679 "Platyspondylia" [Orphanet:16300]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of spine congenital
Orphanet Abnormal form of the vertebral bodies
HPO         Abnormal form of the vertebral bodies
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 vertebrae(HPO:0003468)
                      Abnormal form of the vertebral bodies(HPO:0003312)
                         Platyspondyly(HPO:0000926)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of spine congenital(MedDRA:10028383)
          Platyspondyly(HPO:0000926)
Database Frequency: 150 / 7739
Resource:

All diseases associated with this symptom:

Anauxetic dysplasia (Orphanet:93347)
Aspartylglucosaminuria (Orphanet:93)
Atelosteogenesis type II (Orphanet:56304)
Autosomal dominant brachyolmia (Orphanet:93304)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
BARATELA-SCOTT SYNDROME (OMIM:300881)
BRUCK SYNDROME 1 (OMIM:259450)
BRUCK SYNDROME 2 (OMIM:609220)
BRUCK SYNDROME 2 (OMIM:609220)
Brachyolmia (Orphanet:1293)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
Brachyolmia type 1, Toledo type (Orphanet:93303)
Brachyolmia, Maroteaux type (Orphanet:93302)
Brachyolmia-amelogenesis imperfecta syndrome (Orphanet:2899)
Bruck syndrome (Orphanet:2771)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Cardiomyopathy-cataract-hip spine disease (Orphanet:1345)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Cockayne syndrome (Orphanet:191)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Czech dysplasia, metatarsal type (Orphanet:137678)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED (OMIM:304950)
Desbuquois syndrome (Orphanet:1425)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dysosteosclerosis (Orphanet:1782)
Dyssegmental dysplasia - glaucoma (Orphanet:1804)
Dysspondyloenchondromatosis (Orphanet:85198)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Enchondromatosis (Orphanet:296)
FIBROCHONDROGENESIS 1 (OMIM:228520)
FIBROCHONDROGENESIS 2 (OMIM:614524)
Fibrochondrogenesis (Orphanet:2021)
GM1 gangliosidosis type 2 (Orphanet:79256)
GM1 gangliosidosis type 3 (Orphanet:79257)
Geleophysic dysplasia (Orphanet:2623)
Geroderma osteodysplastica (Orphanet:2078)
Goldblatt syndrome (Orphanet:166272)
Goldblatt syndrome (Orphanet:166272)
Hall-Riggs syndrome (Orphanet:2107)
Hurler-Scheie syndrome (Orphanet:93476)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile hypophosphatasia (Orphanet:247651)
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS (OMIM:245160)
Kniest dysplasia (Orphanet:485)
Kyphomelic dysplasia (Orphanet:1801)
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE (OMIM:601356)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lowry-Wood syndrome (Orphanet:1824)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Marshall syndrome (Orphanet:560)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal anadysplasia (Orphanet:1040)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Metatropic dysplasia (Orphanet:2635)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (Orphanet:93279)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 4A (Orphanet:309297)
Mucopolysaccharidosis type 4B (Orphanet:309310)
Mucopolysaccharidosis type 7 (Orphanet:584)
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia (Orphanet:166029)
Myhre syndrome (Orphanet:2588)
OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
OSTEOGENESIS IMPERFECTA, TYPE V (OMIM:610967)
OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
Occipital horn syndrome (Orphanet:198)
Oculocerebrorenal syndrome (Orphanet:534)
Osteocraniostenosis (Orphanet:2763)
Osteogenesis imperfecta type 2 (Orphanet:216804)
Osteogenesis imperfecta type 5 (Orphanet:216828)
Osteoglophonic dwarfism (Orphanet:2645)
Osteoporosis - pseudoglioma (Orphanet:2788)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
Parastremmatic dwarfism (Orphanet:2646)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Progressive pseudorheumatoid arthropathy of childhood (Orphanet:1159)
Pseudoachondroplasia (Orphanet:750)
Pseudodiastrophic dysplasia (Orphanet:85174)
Pyle disease (Orphanet:3005)
Rhizomelic dysplasia, Patterson-Lowry type (Orphanet:2831)
SECOND METATARSAL-METACARPAL SYNDROME (OMIM:269630)
SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
SPONASTRIME dysplasia (Orphanet:93357)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT (OMIM:184100)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE (OMIM:271600)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE (OMIM:609223)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS (OMIM:609616)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Schwartz-Jampel syndrome (Orphanet:800)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Smith-McCort dysplasia (Orphanet:178355)
Spondylo-ocular syndrome (Orphanet:85194)
Spondylocamptodactyly syndrome (Orphanet:3180)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia - abnormal dentition (Orphanet:168451)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondyloepimetaphyseal dysplasia, Pakistani type (Orphanet:93282)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepimetaphyseal dysplasia, matrilin-3 type (Orphanet:156728)
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia (Orphanet:253)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondyloepiphyseal dysplasia tarda, Kohn type (Orphanet:163665)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Spondyloepiphyseal dysplasia, Kimberley type (Orphanet:93283)
Spondyloepiphyseal dysplasia, MacDermot type (Orphanet:163668)
Spondyloepiphyseal dysplasia, Maroteaux type (Orphanet:263482)
Spondylometaphyseal dysplasia (Orphanet:254)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, A4 type (Orphanet:168555)
Spondylometaphyseal dysplasia, Golden type (Orphanet:168544)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Stickler syndrome type 3 (Orphanet:166100)
THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Trisomy 20p (Orphanet:261318)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349)