Congenital contracture

Symptom Information:

Symptom ID: HPO:0002803
Synonyms:
Congenital joint contractures [HPO:0002803]
Congenital contractures [OMIM:Congenital contractures]
Congenital joint contractures [OMIM:Congenital joint contractures]
Congenital joint contracture (elbow and knees) [OMIM:Congenital joint contracture (elbow and knees)]
Joint contractures, congenital (knee, ankle, hip, elbow) [OMIM:Joint contractures, congenital (knee, ankle, hip, elbow)]
Quality:
Cross references:
OMIM: "Congenital contractures" [OMIM:Congenital contractures]
OMIM: "Congenital joint contractures" [OMIM:Congenital joint contractures]
OMIM: "Congenital joint contracture (elbow and knees)" [OMIM:Congenital joint contracture (elbow and knees)]
OMIM: "Joint contractures, congenital (knee, ankle, hip, elbow)" [OMIM:Joint contractures, congenital (knee, ankle, hip, elbow)]
Is a (Direct Parents):
HPO         Flexion contracture
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of connective tissue(HPO:0003549)
          Flexion contracture(HPO:0001371)
             Congenital contracture(HPO:0002803)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of joint mobility(HPO:0011729)
                   Flexion contracture(HPO:0001371)
                      Congenital contracture(HPO:0002803)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Flexion contracture(HPO:0001371)
                Congenital contracture(HPO:0002803)
MedDRA:
Database Frequency: 45 / 7739
Resource:

All diseases associated with this symptom:

19p13.12 microdeletion syndrome (Orphanet:254346)
1q21.1 microduplication syndrome (Orphanet:250994)
Antecubital pterygium syndrome (Orphanet:2987)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
BRUCK SYNDROME 1 (OMIM:259450)
BRUCK SYNDROME 2 (OMIM:609220)
Bruck syndrome (Orphanet:2771)
COFS syndrome (Orphanet:1466)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
Christianson syndrome (Orphanet:85278)
Cockayne syndrome (Orphanet:191)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Contractures - ectodermal dysplasia - cleft lip/palate (Orphanet:1484)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Gaucher disease (Orphanet:355)
Genitopatellar syndrome (Orphanet:85201)
German syndrome (Orphanet:2077)
Iniencephaly (Orphanet:63259)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
Lethal multiple pterygium syndrome (Orphanet:33108)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Marden-Walker syndrome (Orphanet:2461)
Moebius syndrome (Orphanet:570)
Mosaic trisomy 8 (Orphanet:96061)
Muscle-eye-brain disease (Orphanet:588)
NEMALINE MYOPATHY 2 (OMIM:256030)
Nakajo-Nishimura syndrome (Orphanet:2615)
Neu-Laxova syndrome (Orphanet:2671)
Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
PEHO syndrome (Orphanet:2836)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 4 (Orphanet:166063)
Roberts syndrome (Orphanet:3103)
Rothmund-Thomson syndrome (Orphanet:2909)
Schwartz-Jampel syndrome (Orphanet:800)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)