Bowing of the long bones

Symptom Information:

Symptom ID: HPO:0006487
Synonyms:
Bowed long bones [HPO:0006487]
Bowing of long bones [HPO:0006487]
Camptomelia [HPO:0006487]
Diaphyseal bowing [HPO:0006487]
Diaphyseal bowing of long bones [HPO:0006487]
Bowing of long bone [Orphanet:45870]
Bowing of leg (finding) [Orphanet:45870]
Bowed long bones [OMIM:Bowed long bones]
Bowing of long bones [OMIM:Bowing of long bones]
Bowing of the long bones [OMIM:Bowing of the long bones]
Camptomelia [OMIM:Camptomelia]
Bowed diaphysis/diaphyses/long bones [Orphanet:45870]
Bow legs [Orphanet:45870]
Knee deformity [MedDRA:10062061]
Genu recurvatum (acquired) [MedDRA:10062061]
Genu valgum [MedDRA:10062061]
Genu valgum (acquired) [MedDRA:10062061]
Genu valgum or varum (acquired) [MedDRA:10062061]
Genu varum [MedDRA:10062061]
Genu varum (acquired) [MedDRA:10062061]
Knee deformity (acquired) [MedDRA:10062061]
Knee deformity NOS [MedDRA:10062061]
Knock-knee [MedDRA:10062061]
Other acquired deformities of knee [MedDRA:10062061]
Bow legs [MedDRA:10062061]
Bowed long bones (rare) [OMIM:Bowed long bones (rare)]
Bowing of legs [OMIM:Bowing of legs]
Bowing of long bones (in some patients) [OMIM:Bowing of long bones (in some patients)]
Diaphyseal bowing (radius, ulnae, tibiae, fibula) [OMIM:Diaphyseal bowing (radius, ulnae, tibiae, fibula)]
Genu recurvatum (1 family) [OMIM:Genu recurvatum (1 family)]
Genu recurvatum (in some patients) [OMIM:Genu recurvatum (in some patients)]
Genu valgum (present at 1 year) [OMIM:Genu valgum (present at 1 year)]
Genu valgum (rare) [OMIM:Genu valgum (rare)]
Genu varum or valgum [OMIM:Genu varum or valgum]
Leg bowing [OMIM:Leg bowing]
Quality:
Cross references:
Orphanet:45870 "Bowed diaphysis/diaphyses/long bones" [Orphanet:45870]
OMIM: "Bowed long bones" [OMIM:Bowed long bones]
OMIM: "Bowing of long bones" [OMIM:Bowing of long bones]
OMIM: "Bowing of the long bones" [OMIM:Bowing of the long bones]
OMIM: "Camptomelia" [OMIM:Camptomelia]
OMIM: "Bowed long bones (rare)" [OMIM:Bowed long bones (rare)]
OMIM: "Bowing of legs" [OMIM:Bowing of legs]
OMIM: "Bowing of long bones (in some patients)" [OMIM:Bowing of long bones (in some patients)]
OMIM: "Diaphyseal bowing (radius, ulnae, tibiae, fibula)" [OMIM:Diaphyseal bowing (radius, ulnae, tibiae, fibula)]
OMIM: "Genu recurvatum (1 family)" [OMIM:Genu recurvatum (1 family)]
OMIM: "Genu recurvatum (in some patients)" [OMIM:Genu recurvatum (in some patients)]
OMIM: "Genu valgum (present at 1 year)" [OMIM:Genu valgum (present at 1 year)]
OMIM: "Genu valgum (rare)" [OMIM:Genu valgum (rare)]
OMIM: "Genu varum or valgum" [OMIM:Genu varum or valgum]
OMIM: "Leg bowing" [OMIM:Leg bowing]
Is a (Direct Parents):
MedDRA Extremity deformities
HPO         Anomaly of the limb diaphyses
Orphanet Abnormal diaphysis morphology
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)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormal diaphysis morphology(HPO:0000940)
                   Anomaly of the limb diaphyses(HPO:0006504)
                      Bowing of the long bones(HPO:0006487)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Anomaly of the limb diaphyses(HPO:0006504)
                      Bowing of the long bones(HPO:0006487)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue deformities (incl intervertebral disc disorders)(MedDRA:10028377)
       Extremity deformities(MedDRA:10012139)
          Bowing of the long bones(HPO:0006487)
Database Frequency: 95 / 7739
Resource:

All diseases associated with this symptom:

Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Achondroplasia (Orphanet:15)
Acro-oto-ocular syndrome (Orphanet:2980)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Acroosteolysis, dominant type (Orphanet:955)
Alpha-mannosidosis (Orphanet:61)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Baller-Gerold syndrome (Orphanet:1225)
Bruck syndrome (Orphanet:2771)
CAMPTOMELIC SYNDROME, LONG-LIMB TYPE (OMIM:211990)
CHST3-related skeletal dysplasia (Orphanet:263463)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
Campomelia, Cumming type (Orphanet:1318)
Campomelic dysplasia (Orphanet:140)
Cartilage-hair hypoplasia (Orphanet:175)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Coats plus syndrome (Orphanet:313838)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital bowing of long bones (Orphanet:2292)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Diastrophic dwarfism (Orphanet:628)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Dysostosis, Stanescu type (Orphanet:1798)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
Eye defects - arachnodactyly - cardiopathy (Orphanet:2725)
Frank-Ter Haar syndrome (Orphanet:137834)
Frontometaphyseal dysplasia (Orphanet:1826)
Fuhrmann syndrome (Orphanet:2854)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Gnathodiaphyseal dysplasia (Orphanet:53697)
Goldblatt syndrome (Orphanet:166272)
Grant syndrome (Orphanet:2097)
Greenberg dysplasia (Orphanet:1426)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
Hypochondroplasia (Orphanet:429)
Hypophosphatasia (Orphanet:436)
Hypophosphatemic rickets (Orphanet:437)
Hypoplastic tibiae - postaxial polydactyly (Orphanet:3332)
Joubert syndrome 2 (OMIM:608091)
Juvenile Paget disease (Orphanet:2801)
Kyphomelic dysplasia (Orphanet:1801)
Langer mesomelic dysplasia (Orphanet:2632)
Leri pleonosteosis (Orphanet:2900)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal recessive chondrodysplasia (Orphanet:1423)
Marshall-Smith syndrome (Orphanet:561)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 2 (OMIM:603194)
Meckel syndrome, type 4 (OMIM:611134)
Meckel syndrome, type 5 (OMIM:611561)
Menkes disease (Orphanet:565)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Metachondromatosis (Orphanet:2499)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal anadysplasia (Orphanet:1040)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mucopolysaccharidosis type 4 (Orphanet:582)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteoglophonic dwarfism (Orphanet:2645)
Osteoporosis - pseudoglioma (Orphanet:2788)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PRENATAL BOWING (OMIM:264050)
Pacman dysplasia (Orphanet:1952)
Parastremmatic dwarfism (Orphanet:2646)
Phocomelia, Schinzel type (Orphanet:2879)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Pseudoachondroplasia (Orphanet:750)
Roberts syndrome (Orphanet:3103)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Schinzel-Giedion syndrome (Orphanet:798)
Schwartz-Jampel syndrome (Orphanet:800)
Short-rib thoracic dysplasia 7 with or without polydactyly (OMIM:614091)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet:93356)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Stüve-Wiedemann syndrome (Orphanet:3206)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Van den Ende-Gupta syndrome (Orphanet:2460)
Weismann-Netter syndrome (Orphanet:3344)