Arthrogryposis multiplex congenita

Symptom Information:

Symptom ID: HPO:0002804
Synonyms:
Arthrogryposis [HPO:0002804]
Arthrogryposis multiplex [HPO:0002804]
Arthrogryposis, congenital [HPO:0002804]
Multiple congenital contractures [HPO:0002804]
Arthrogryposis [Orphanet:18800]
Arthrogryposis (disorder) [Orphanet:18800]
Arthrogryposis [OMIM:Arthrogryposis]
Arthrogryposis multiplex [OMIM:Arthrogryposis multiplex]
Arthrogryposis multiplex congenita [OMIM:Arthrogryposis multiplex congenita]
Arthrogryposis, congenital [OMIM:Arthrogryposis, congenital]
Multiple congenital contractures [OMIM:Multiple congenital contractures]
Arthrogryposis (6%) [OMIM:Arthrogryposis (6%)]
Arthrogryposis (in some patients) [OMIM:Arthrogryposis (in some patients)]
Arthrogryposis (rare) [OMIM:Arthrogryposis (rare)]
Arthrogryposis (severe form) [OMIM:Arthrogryposis (severe form)]
Arthrogryposis multiplex (in perinatal or congenital neuromuscular forms) [OMIM:Arthrogryposis multiplex (in perinatal or congenital neuromuscular forms)]
Congenital contractures, multiple [OMIM:Congenital contractures, multiple]
Contractures, multiple congenital [OMIM:Contractures, multiple congenital]
Quality:
Cross references:
HPO:0001371 "Flexion contracture" [Orphanet:18800]
HPO:0005684 "Distal arthrogryposis" [Orphanet:18800]
Orphanet:18800 "Arthrogryposis" [Orphanet:18800]
OMIM: "Arthrogryposis" [OMIM:Arthrogryposis]
OMIM: "Arthrogryposis multiplex" [OMIM:Arthrogryposis multiplex]
OMIM: "Arthrogryposis multiplex congenita" [OMIM:Arthrogryposis multiplex congenita]
OMIM: "Arthrogryposis, congenital" [OMIM:Arthrogryposis, congenital]
OMIM: "Multiple congenital contractures" [OMIM:Multiple congenital contractures]
OMIM: "Arthrogryposis (6%)" [OMIM:Arthrogryposis (6%)]
OMIM: "Arthrogryposis (in some patients)" [OMIM:Arthrogryposis (in some patients)]
OMIM: "Arthrogryposis (rare)" [OMIM:Arthrogryposis (rare)]
OMIM: "Arthrogryposis (severe form)" [OMIM:Arthrogryposis (severe form)]
OMIM: "Arthrogryposis multiplex (in perinatal or congenital neuromuscular forms)" [OMIM:Arthrogryposis multiplex (in perinatal or congenital neuromuscular forms)]
OMIM: "Congenital contractures, multiple" [OMIM:Congenital contractures, multiple]
OMIM: "Contractures, multiple congenital" [OMIM:Contractures, multiple congenital]
UMLS:C0003886 "Arthrogryposis" [Orphanet:18800]
Is a (Direct Parents):
HPO         Congenital contracture
Orphanet Aplasia/hypoplasia of the extremities
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Flexion contracture(HPO:0001371)
                Congenital contracture(HPO:0002803)
                   Arthrogryposis multiplex congenita(HPO:0002804)
       Abnormality of connective tissue(HPO:0003549)
          Flexion contracture(HPO:0001371)
             Congenital contracture(HPO:0002803)
                Arthrogryposis multiplex congenita(HPO:0002804)
       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)
                         Arthrogryposis multiplex congenita(HPO:0002804)
MedDRA:
Database Frequency: 93 / 7739
Resource:

All diseases associated with this symptom:

ALG3-CDG (Orphanet:79321)
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
ARTHROGRYPOSIS, DISTAL, TYPE 2E (OMIM:121070)
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES (OMIM:208080)
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES (OMIM:208081)
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adenylosuccinate lyase deficiency (Orphanet:46)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Arthrogryposis - hyperkeratosis, lethal form (Orphanet:1485)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Arthrogryposis multiplex congenita (Orphanet:1037)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Arthrogryposis-like hand anomaly - sensorineural deafness (Orphanet:1144)
Arthrogryposis-like syndrome (Orphanet:1149)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2D (Orphanet:62)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Buschke-Ollendorff syndrome (Orphanet:1306)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME (OMIM:212540)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
COFS syndrome (Orphanet:1466)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Desmosterolosis (Orphanet:35107)
Diabetic embryopathy (Orphanet:1926)
Digitotalar dysmorphism (Orphanet:1146)
Distal arthrogryposis type 10 (Orphanet:251515)
Distal arthrogryposis type 5D (Orphanet:329457)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Freeman-Sheldon syndrome (Orphanet:2053)
Gaucher disease type 2 (Orphanet:77260)
German syndrome (Orphanet:2077)
Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367)
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form (Orphanet:308712)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form (Orphanet:308684)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form (Orphanet:308698)
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form (Orphanet:308670)
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form (Orphanet:308655)
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form (Orphanet:308638)
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (Orphanet:308621)
Gordon syndrome (Orphanet:376)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
Junctional epidermolysis bullosa - pyloric atresia (Orphanet:79403)
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Lethal arthrogryposis - anterior horn cell disease (Orphanet:53696)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal congenital contracture syndrome type 2 (Orphanet:137776)
Lethal congenital contracture syndrome type 3 (Orphanet:137783)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lissencephaly type 3 - metacarpal bone dysplasia (Orphanet:86822)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616326)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Meckel syndrome, type 12 (OMIM:616258)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Moebius syndrome (Orphanet:570)
NEMALINE MYOPATHY 10 (OMIM:616165)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX (OMIM:162370)
Nemaline myopathy (Orphanet:607)
Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelvic dysplasia - arthrogryposis of lower limbs (Orphanet:2840)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Presynaptic congenital myasthenic syndromes (Orphanet:98914)
SPONDYLOSPINAL THORACIC DYSOSTOSIS (OMIM:601809)
Sheldon-Hall syndrome (Orphanet:1147)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Trismus - pseudocamptodactyly (Orphanet:3377)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)