MCID: CNG065
MIFTS: 28

Congenital Contractures

Categories: Rare diseases

Aliases & Classifications for Congenital Contractures

MalaCards integrated aliases for Congenital Contractures:

Name: Congenital Contractures 52
Congenital Contracture 29 6

Classifications:



Summaries for Congenital Contractures

MalaCards based summary : Congenital Contractures, also known as congenital contracture, is related to lethal congenital contracture syndrome 2 and congenital contractures of the limbs and face, hypotonia, and developmental delay. An important gene associated with Congenital Contractures is GLDN (Gliomedin). Affiliated tissues include bone, heart and skeletal muscle, and related phenotype is mortality/aging.

Related Diseases for Congenital Contractures

Diseases related to Congenital Contractures via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 161, show less)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 2 34.4 TRIP4 ASCC1
2 congenital contractures of the limbs and face, hypotonia, and developmental delay 34.2 NALCN-AS1 NALCN
3 arthrogryposis, distal, type 1a 31.9 RYR1 ASCC1
4 arthrogryposis, distal, type 2b1 31.5 TNNT3 NALCN
5 multiple pterygium syndrome, escobar variant 31.4 TNNT3 RYR1 LMOD3 CHRNG
6 scoliosis 29.8 ZC4H2 RYR1 PLOD1 CHRNG
7 anterior horn cell disease 29.7 VRK1 UBA1
8 distal arthrogryposis 29.4 ZC4H2 TNNT3 RYR1 NALCN LMOD3 GLDN
9 muscular atrophy 29.2 VRK1 UBA1 TRIP4 RYR1 ASCC1
10 neuromuscular disease 29.0 RYR1 CHRNG ASCC1
11 spinal muscular atrophy 29.0 VRK1 UBA1 TRIP4 RYR1 ASCC1
12 lethal congenital contracture syndrome 1 12.7
13 lethal congenital contracture syndrome 11 12.7
14 lethal congenital contracture syndrome 4 12.7
15 lethal congenital contracture syndrome 12.6
16 lethal congenital contracture syndrome 8 12.6
17 lethal congenital contracture syndrome 6 12.6
18 lethal congenital contracture syndrome 3 12.6
19 lethal congenital contracture syndrome 5 12.5
20 lethal congenital contracture syndrome 7 12.5
21 lethal congenital contracture syndrome 9 12.5
22 lethal congenital contracture syndrome 10 12.5
23 contractural arachnodactyly, congenital 12.4
24 wieacker-wolff syndrome 12.1
25 van den ende-gupta syndrome 11.7
26 spinal muscular atrophy, x-linked 2 11.5
27 ehlers-danlos syndrome, musculocontractural type, 1 11.5
28 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.5
29 marfan syndrome 11.4
30 bruck syndrome 11.3
31 arthrogryposis, distal, type 2a 11.3
32 bruck syndrome 1 11.3
33 arthrogryposis, distal, type 2b2 11.3
34 musculocontractural ehlers-danlos syndrome 11.3
35 spinal muscular atrophy with congenital bone fractures 1 11.1
36 spinal muscular atrophy with congenital bone fractures 2 11.1
37 holoprosencephaly with fetal akinesia/hypokinesia sequence 11.1
38 miles-carpenter syndrome 11.1
39 windblown hand 11.1
40 arthrogryposis, distal, type 5 11.0
41 arthrogryposis multiplex congenita, neurogenic type 11.0
42 rhizomelic chondrodysplasia punctata, type 1 11.0
43 rhizomelic chondrodysplasia punctata, type 2 11.0
44 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
45 rhizomelic chondrodysplasia punctata, type 3 11.0
46 pontocerebellar hypoplasia, type 1a 11.0
47 congenital arthrogryposis with anterior horn cell disease 11.0
48 nemaline myopathy 10 11.0
49 rhizomelic chondrodysplasia punctata, type 5 11.0
50 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.0
51 fetal akinesia deformation sequence 4 11.0
52 rhizomelic chondrodysplasia punctata 11.0
53 alkuraya-kucinskas syndrome 10.5
54 congenital amyoplasia 10.5
55 marden-walker syndrome 10.3
56 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.3 TRIP4 ASCC1
57 arthrogryposis, distal, type 7 10.2
58 mitochondrial dna depletion syndrome 2 10.2 TRIP4 ASCC1
59 mitochondrial dna depletion syndrome 3 10.1 TRIP4 ASCC1
60 orthostatic intolerance 10.1
61 hypotonia 10.1
62 digitotalar dysmorphism 10.1 TNNT3 NALCN
63 myopathy 10.1
64 multiple pterygium syndrome, lethal type 10.0 RYR1 CHRNG
65 alacrima, achalasia, and mental retardation syndrome 10.0
66 isolated ectopia lentis 10.0
67 keratoconus 10.0
68 microcephaly 10.0
69 refractive error 10.0
70 brittle cornea syndrome 2 9.9 PLOD1 CHST14
71 atrial standstill 1 9.9
72 cleft palate, isolated 9.9
73 hypertelorism 9.9
74 protrusio acetabuli 9.9
75 torticollis 9.9
76 restrictive dermopathy, lethal 9.9
77 brittle bone disorder 9.9
78 autosomal recessive disease 9.9
79 blepharophimosis 9.9
80 hypospadias 9.9
81 clubfoot 9.9
82 ventricular septal defect 9.9
83 heart septal defect 9.9
84 atrial heart septal defect 9.9
85 congenital myasthenic syndrome 9.9
86 connective tissue disease 9.9
87 malignant hyperthermia 9.9
88 homocystinuria 9.9
89 fetal akinesia deformation sequence 1 9.9 RYR1 ASCC1
90 aplasia cutis congenita, nonsyndromic 9.8
91 cleft soft palate 9.8
92 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
93 ear folding 9.8
94 ectopia lentis 1, isolated, autosomal dominant 9.8
95 strabismus 9.8
96 velocardiofacial syndrome 9.8
97 illum syndrome 9.8
98 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8
99 autism 9.8
100 contractures, congenital, torticollis, and malignant hyperthermia 9.8
101 dandy-walker syndrome 9.8
102 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8
103 gastroschisis 9.8
104 hydrops fetalis, nonimmune 9.8
105 mandibuloacral dysplasia with type a lipodystrophy 9.8
106 schwartz-jampel syndrome, type 1 9.8
107 peters-plus syndrome 9.8
108 kearns-sayre syndrome 9.8
109 patent ductus arteriosus 1 9.8
110 mandibuloacral dysplasia with type b lipodystrophy 9.8
111 bruck syndrome 2 9.8
112 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
113 hydrops, lactic acidosis, and sideroblastic anemia 9.8
114 loeys-dietz syndrome 9.8
115 brachydactyly 9.8
116 apraxia 9.8
117 ptosis 9.8
118 stickler syndrome 9.8
119 sensorineural hearing loss 9.8
120 suppression amblyopia 9.8
121 amblyopia 9.8
122 hydrocephalus 9.8
123 myopia 9.8
124 synostosis 9.8
125 dilated cardiomyopathy 9.8
126 ehlers-danlos syndrome 9.8
127 ectropion 9.8
128 keratosis 9.8
129 pneumothorax 9.8
130 constipation 9.8
131 ectodermal dysplasia 9.8
132 hemangioma 9.8
133 capillary hemangioma 9.8
134 aortic aneurysm 9.8
135 arthropathy 9.8
136 hydranencephaly 9.8
137 movement disease 9.8
138 aortic disease 9.8
139 aortic valve insufficiency 9.8
140 paraplegia 9.8
141 placenta disease 9.8
142 cleft lip 9.8
143 mechanical strabismus 9.8
144 pathologic nystagmus 9.8
145 cold-induced sweating syndrome including crisponi syndrome 9.8
146 plod1-related kyphoscoliotic ehlers-danlos syndrome 9.8
147 48,xyyy 9.8
148 cerebro-oculo-facio-skeletal syndrome 9.8
149 congenital torticollis 9.8
150 erythrokeratoderma ''en cocardes'' 9.8
151 nontuberculous mycobacterial lung disease 9.8
152 abdominal wall defect 9.8
153 aneurysm 9.8
154 cleft lip/palate 9.8
155 neonatal marfan syndrome 9.8
156 oculomotor apraxia 9.8
157 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.8
158 congenital structural myopathy 9.6 TNNT3 RYR1 LMOD3
159 congenital fiber-type disproportion 9.6 TNNT3 RYR1 LMOD3
160 polyhydramnios 9.5 VRK1 LMOD3 GLDN
161 respiratory failure 9.4 TRIP4 RYR1 LMOD3

Graphical network of the top 20 diseases related to Congenital Contractures:



Diseases related to Congenital Contractures

Symptoms & Phenotypes for Congenital Contractures

MGI Mouse Phenotypes related to Congenital Contractures:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 ASCC1 CHRNG CHST14 GLDN LMOD3 NALCN

Drugs & Therapeutics for Congenital Contractures

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402

Search NIH Clinical Center for Congenital Contractures

Genetic Tests for Congenital Contractures

Genetic tests related to Congenital Contractures:

# Genetic test Affiliating Genes
1 Congenital Contracture 29

Anatomical Context for Congenital Contractures

MalaCards organs/tissues related to Congenital Contractures:

40
Bone, Heart, Skeletal Muscle, Spinal Cord, Skin, Brain, Lung

Publications for Congenital Contractures

Articles related to Congenital Contractures:

(showing 301, show less)
# Title Authors PMID Year
1
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 61
31497877 2020
2
Management of severe congenital flexion deformity of the knee using Ilizarov method. 61
30807513 2020
3
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. 61
31472299 2020
4
Expanding the clinical and molecular spectrum of Lethal Congenital Contracture Syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2019
5
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture. 61
31752936 2019
6
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. 61
31368648 2019
7
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. 61
31318155 2019
8
Gene ontology analysis of arthrogryposis (multiple congenital contractures). 61
31369690 2019
9
A standardized autopsy protocol for arthrogryposis (multiple congenital contractures). 61
31373772 2019
10
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper. 61
31099966 2019
11
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. 61
31409833 2019
12
Association Between Neonatal Neuroimaging and Clinical Outcomes in Zika-Exposed Infants From Rio de Janeiro, Brazil. 61
31365112 2019
13
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 61
30938034 2019
14
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. 61
30868735 2019
15
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 61
30859550 2019
16
Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E. 61
31064215 2019
17
Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population. 61
31105263 2019
18
MET mutation causes muscular dysplasia and arthrogryposis. 61
30777867 2019
19
Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders. 61
30741031 2019
20
Ocular Manifestations and Visual Outcome in Children With Congenital Zika Syndrome. 61
30817677 2019
21
Recognizing Congenital Pressure Injuries: A Case Series. 61
30543560 2019
22
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. 61
30549416 2019
23
Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D). 61
31555621 2019
24
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. 61
30230566 2019
25
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 61
30343943 2018
26
Use Of Ankle Immobilization In Evaluating Treatments To Promote Longitudinal Muscle Growth In Mice. 61
29981243 2018
27
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 61
30054298 2018
28
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). 61
30167850 2018
29
Taking the defensive: Immune control of Zika virus infection. 61
28867493 2018
30
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. 61
29691892 2018
31
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry. 61
29961027 2018
32
A homozygous TTN gene variant associated with lethal congenital contracture syndrome. 61
29575618 2018
33
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. 61
29254829 2018
34
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. 61
29274205 2018
35
Phenotype variability and histopathological findings in patients with a novel DNM2 mutation. 61
28971531 2018
36
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. 61
29379570 2018
37
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. 61
28657126 2018
38
Wieacker-Wolff syndrome with associated cleft palate in a female case. 61
29150902 2018
39
Zika Virus Infection in Pregnancy: Maternal, Fetal, and Neonatal Considerations. 61
29267916 2017
40
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 61
28884921 2017
41
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders. 61
29132416 2017
42
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). 61
28726266 2017
43
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 61
28733338 2017
44
Genetics and Classifications. 61
28594686 2017
45
Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report. 61
27987045 2017
46
[Femur fracture in a patient with dog-leg deformity secondary to arthrogryposis. Description of a unique osteosynthesis method]. 61
29216707 2017
47
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. 61
27812690 2017
48
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? 61
28209770 2017
49
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 61
27684565 2017
50
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. 61
28163941 2017
51
Muscle biopsy findings in a child with NALCN gene mutation. 61
27473021 2016
52
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. 61
27558372 2016
53
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. 61
27375131 2016
54
Arthrogryposis as a Syndrome: Gene Ontology Analysis. 61
27587986 2016
55
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. 61
27245440 2016
56
Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo. 61
26921650 2016
57
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. 61
26924529 2016
58
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. 61
26646600 2016
59
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. 61
27196565 2016
60
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. 61
26374086 2016
61
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2. 61
25529940 2015
62
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. 61
26086840 2015
63
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. 61
25740846 2015
64
Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17-19, 2014. 61
25847824 2015
65
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. 61
25712306 2015
66
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 61
25957469 2015
67
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. 61
25703627 2015
68
ECEL1 mutation causes fetal arthrogryposis multiplex congenita. 61
25708584 2015
69
Congenital segmental spinal muscular atrophy: a case report. 61
25300987 2015
70
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. 61
25512093 2015
71
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 61
25683120 2015
72
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 61
25343993 2015
73
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). 61
25055871 2014
74
Genotype-phenotype relationships in Freeman-Sheldon syndrome. 61
25256237 2014
75
Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes. 61
25160497 2014
76
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. 61
25045026 2014
77
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene. 61
27625873 2014
78
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. 61
25337069 2014
79
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. 61
24704792 2014
80
Aortic aneurysm in three siblings with multiple congenital contractures. 61
24977674 2014
81
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. 61
23808592 2014
82
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. 61
23829171 2014
83
Freeman-Sheldon syndrome and respiratory obstruction: a novel use of distraction osteogenesis. 61
24777016 2014
84
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 61
24726473 2014
85
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 61
24319099 2014
86
Congenital gluteus maximus contracture syndrome--a case report with review of imaging findings. 61
24967033 2014
87
Amyoplasia revisited. 61
24459070 2014
88
Nonlethal multiple pterygium syndrome: Escobar syndrome. 61
24472885 2014
89
Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome. 61
25059014 2014
90
Escobar syndrome with heterotaxia and esophageal atresia: case report. 61
25365855 2014
91
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis. 61
24275432 2014
92
Plant alkaloids that cause developmental defects through the disruption of cholinergic neurotransmission. 61
24339035 2013
93
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. 61
23873045 2013
94
Successful pregnancy in a woman with arthrogryposis multiplex congenita. 61
24311425 2013
95
Is webbing (pterygia) a constant feature in patients with Escobar syndrome? 61
24254455 2013
96
The first case of Bruck syndrome associated with gastroschisis. 61
24577988 2013
97
Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease. 61
24243016 2013
98
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. 61
23850728 2013
99
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. 61
23712425 2013
100
Piperidine, pyridine alkaloid inhibition of fetal movement in a day 40 pregnant goat model. 61
23603380 2013
101
Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too. 61
24175015 2013
102
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. 61
23664116 2013
103
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. 61
23678273 2013
104
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. 61
23401156 2013
105
Mutations in ECEL1 cause distal arthrogryposis type 5D. 61
23261301 2013
106
Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. 61
23296716 2013
107
Uterine structural anomalies and arthrogryposis-death of an urban legend. 61
23239599 2013
108
Management of knee deformities in children with arthrogryposis. 61
22875688 2012
109
Myopathies associated with β-tropomyosin mutations. 61
22749895 2012
110
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy. 61
22888032 2012
111
Cerebro-oculo-facio-skeletal syndrome. 61
22980622 2012
112
Distal arthrogryposis: clinical and genetic findings. 61
22519952 2012
113
Piperidine alkaloids: human and food animal teratogens. 61
22449544 2012
114
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. 61
22357925 2012
115
The reverse posterior interosseous artery flap: technical considerations in raising an easier and more reliable flap. 61
22321438 2012
116
Diagnosing arthrogryposis multiplex congenita: a review. 61
23050160 2012
117
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 61
22107750 2011
118
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. 61
21834041 2011
119
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients. 61
21744491 2011
120
Arthrogryposis: a review and approach to prenatal diagnosis. 61
21851751 2011
121
Management of contractures: a five-year experience at Komfo Anokye Teaching Hospital in Kumasi. 61
21857724 2011
122
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. 61
21402185 2011
123
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 61
20839288 2011
124
[The up-to-date data on congenital contracture of the elbow joint]. 61
21674946 2011
125
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. 61
21157886 2010
126
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 61
20503305 2010
127
[Joint contractures in older age. A systematic literature review]. 61
20069303 2010
128
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. 61
19968489 2010
129
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. 61
20045868 2010
130
Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report. 61
20964128 2010
131
RNA processing defects associated with diseases of the motor neuron. 61
19697368 2010
132
Congenital perisylvian dysfunction - is it a spectrum? 61
19549204 2010
133
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. 61
20004762 2009
134
[Arthrogryposis multiplex congenita and retinitis pigmentosa]. 61
19499227 2009
135
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy. 61
19302945 2009
136
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. 61
19213027 2009
137
Familial chilblain and late contractural arachnodactyly: a novel association? 61
19124263 2009
138
Sheldon-Hall syndrome. 61
19309503 2009
139
Umbilical cord disruption sequence caused by long cord in two unrelated infants with amyoplasia. 61
19365739 2009
140
A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones. 61
19006219 2008
141
Spinal Muscular Atrophy, X-Linked Infantile 61
20301739 2008
142
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. 61
18718019 2008
143
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? 61
17681808 2008
144
Idiopathic toe-walking. 61
18432151 2008
145
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. 61
18179898 2008
146
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. 61
17937442 2007
147
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. 61
17431882 2007
148
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. 61
17380469 2007
149
Genetics of arthrogryposis: linkage analysis approach. 61
17195815 2007
150
Third refinement in rhomboid release of contractures by adding four-flap z-plasties. 61
21991065 2007
151
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. 61
17194691 2007
152
Neural precursor cells from a fatal human motoneuron disease differentiate despite aberrant gene expression. 61
17443787 2007
153
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. 61
17515308 2007
154
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. 61
17224690 2007
155
Lower motor neuron involvement in perisylvian polymicrogyria. 61
16978465 2006
156
Congenital contracture of the quadriceps muscle: confirming the diagnosis with magnetic resonance imaging. 61
16837229 2006
157
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. 61
16802141 2006
158
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. 61
16892327 2006
159
[Arthrogryposis multiplex congenita--a rare congenital stiff joints syndrome]. 61
17140040 2006
160
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. 61
16642020 2006
161
Clinical characteristics and natural history of Freeman-Sheldon syndrome. 61
16510655 2006
162
Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease. 61
16155903 2005
163
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. 61
15971261 2005
164
Clinical phenotypes and molecular genetic mechanisms of Carney complex. 61
15992699 2005
165
The distal arthrogryposes: a new classification of peripheral contractures. 61
15930940 2005
166
Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature. 61
15602097 2005
167
Dominant form of arthrogryposis multiplex congenita with limited mouth opening: a clinical and imaging study. 61
15779543 2005
168
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. 61
15523624 2004
169
Congenital contracture of the quadriceps muscle: a case report with magnetic resonance imaging. 61
14534799 2004
170
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. 61
12865991 2003
171
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. 61
12673658 2003
172
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 61
12592607 2003
173
A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred. 61
12548738 2003
174
Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese). 61
12927089 2003
175
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. 61
12383326 2002
176
Beals-Hecht syndrome. 61
12144083 2002
177
Pena-Shokier phenotype: case presentation and review. 61
12150592 2002
178
Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome? 61
12150211 2002
179
Multiple congenital contractures: birth prevalence, etiology, and outcome. 61
11815765 2002
180
Multiple congenital contractures (congenital multiple arthrogryposis). 61
11933662 2002
181
Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome? 61
11471174 2001
182
Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis. 61
11029151 2000
183
[Value of a new first web space reconstruction in congenital hand deformities. A study of 54 patients]. 61
10989759 2000
184
Congenital contractural arachnodactyly (Beals syndrome). 61
10927940 2000
185
Biochemistry of hemlock (Conium maculatum L.) alkaloids and their acute and chronic toxicity in livestock. A review. 61
10340826 1999
186
Pontocerebellar hypoplasia associated with respiratory-chain defects. 61
10401692 1999
187
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. 61
10219778 1999
188
Familial pontocerebellar hypoplasia type I with anterior horn cell disease. 61
10727190 1999
189
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. 61
9683599 1998
190
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. 61
9737771 1998
191
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. 61
9536089 1998
192
Hamstring shortening: postural defect or congenital contracture. 61
9481662 1998
193
Congenital contracture of the superficial flexor of the hand. 61
9949546 1998
194
The dorsal transposition flap for congenital contractures of the first web space: a 20-year experience. 61
9260624 1997
195
Multiple congenital contractures. 61
9260645 1997
196
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. 61
9090382 1997
197
The spectrum of arthrogryposis in 33 chinese children. 61
9134190 1997
198
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. 61
9012416 1997
199
A revised and extended classification of the distal arthrogryposes. 61
8923935 1996
200
Extending the spectrum of distal arthrogryposis. 61
8923937 1996
201
Arthrogryposis associated with unsuccessful attempts at termination of pregnancy. 61
8723123 1996
202
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. 61
9125342 1996
203
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. 61
7493032 1995
204
[Beals-Hecht Syndrome: report of a neonatal case]. 61
14688984 1995
205
Aplasia cutis congenita with congenital contracture of knee. 61
8984053 1995
206
Marden-Walker syndrome in an adult. 61
7551165 1995
207
A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. 61
8528211 1995
208
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). 61
8597848 1995
209
Prenatal findings in generalized amyoplasia. 61
8532627 1995
210
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. 61
7897624 1995
211
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. 61
7977374 1994
212
Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years. 61
7770128 1994
213
The association of cortical dysplasia and anterior horn arthrogryposis: a case report. 61
7694996 1994
214
Lethal congenital contracture syndrome: further delineation and genetic aspects. 61
7966188 1994
215
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 61
8147499 1993
216
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. 61
7504881 1993
217
Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs. 61
8482956 1993
218
Infantile spinal amylotrophy Werding-Hoffman disease and congenital contractures. 61
8032025 1993
219
Restrictive dermopathy. 61
8152880 1993
220
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. 61
8423615 1993
221
Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. 61
1287175 1992
222
Paraplegia and congenital contractures as a consequence of intrauterine trauma. 61
1621769 1992
223
Ultrasound studies of the effects of certain poisonous plants on uterine function and fetal development in livestock. 61
1526931 1992
224
[Arthrogryposis multiplex congenita. I.]. 61
20429982 1992
225
[Arthrogryposis Multiplex Congenita - Part II.]. 61
20483061 1992
226
Congenital contractural arachnodactyly in a black African kindred. 61
1807801 1991
227
Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. 61
1865475 1991
228
Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome). 61
1881650 1991
229
Acquired contracture of the infraspinatus muscle. A case report and review of the literature. 61
2038950 1991
230
Diagnosis and management of infantile marfan syndrome. 61
2251026 1990
231
Expanded spectrum of findings in Marden-Walker syndrome. 61
2202217 1990
232
Treatment of the windblown hand. 61
2348061 1990
233
A retrospective study of pregnancy complications among 828 cases of arthrogryposis. 61
2222919 1990
234
Congenital skeletal malformations and cleft palate induced in goats by ingestion of Lupinus, Conium and Nicotiana species. 61
2089736 1990
235
Multiple congenital contractures (MCC) and cleft palate induced in goats by ingestion of piperidine alkaloid-containing plants: reduction in fetal movement as the probable cause. 61
2381024 1990
236
Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). 61
2766569 1989
237
Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation. 61
2646626 1989
238
Limb reduction defects in over one million consecutive livebirths. 61
2784595 1989
239
Arthrogryposis. 61
2643273 1989
240
Congenital gluteus maximus contracture. 61
2915914 1989
241
Arthrogryposis associated with connatal Pelizaeus-Merzbacher disease: case report. 61
3205380 1988
242
Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system. 61
3205375 1988
243
The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. 61
3189411 1988
244
A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. 61
3346884 1988
245
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. 61
3344776 1988
246
[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate]. 61
3200664 1988
247
Pursuing teratogenic causes of multiple congenital contractures. 61
3047415 1988
248
Congenital contracture of the infraspinous muscle. A case report. 61
3345137 1988
249
Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia. 61
3321025 1987
250
Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq. 61
2890303 1987
251
Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures. 61
3295844 1987
252
The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions. 61
3561701 1987
253
A congenital myasthenic disorder with paucity of secondary synaptic clefts: deficiency and altered distribution of acetylcholine receptors. 61
3479930 1987
254
Maternal residual beta-cell function and the outcome of diabetic pregnancy. 61
3295178 1987
255
[Ehlers-Danlos syndrome--clinico-pathology and orthopedic treatment]. 61
3819537 1986
256
Diagnostic approaches and prognosis in arthrogryposis (congenital contractures). 61
3320905 1986
257
Analysis of Pena Shokeir phenotype. 61
3541610 1986
258
Hereditary peroneal muscular atrophy in the mouse: an experimental model for congenital contractures (arthrogryposis). 61
3948960 1986
259
Muscle weakness and congenital contractures in a case of congenital myasthenia. 61
3958180 1986
260
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. 61
3840649 1985
261
A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. 61
4039531 1985
262
Genetic aspects of arthrogryposis. 61
3978933 1985
263
The etiology of arthrogryposis (multiple congenital contracture). 61
3884205 1985
264
Chromosomal abnormalities associated with congenital contractures (arthrogryposis). 61
3995785 1985
265
A lethal autosomal recessive syndrome of multiple congenital contractures. 61
3993672 1985
266
A cerebral cause of arthrogryposis: unilateral cerebral hypoplasia. 61
4028586 1985
267
A new autosomal recessive syndrome with Noonan-like phenotype, myopathy with congenital contractures and malignant hyperthermia. 61
4041573 1985
268
An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy. 61
3921377 1985
269
[A fatal autosomal recessive syndrome with multiple congenital contractures]. 61
4039655 1985
270
[Congenital contracture with arachnodactyly. Apropos of 2 cases]. 61
3985502 1985
271
Diagnostic considerations in arthrogryposis syndromes in South Africa. 61
6538466 1984
272
Craniofacial development in arthrogryposis (congenital contractures). 61
6509163 1984
273
An approach to research on congenital contractures. 61
6535603 1984
274
Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. 61
6684397 1983
275
Part I. Amyoplasia: a common, sporadic condition with congenital contractures. 61
6614047 1983
276
Arthrogryposis multiplex congenita. Review with comment. 61
6339980 1983
277
Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis. 61
6842261 1983
278
[Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease]. 61
6834743 1983
279
A case of asymmetrical arthrogryposis--a clinical study and a preliminary report on the value of CT-scanning. 61
6638396 1983
280
Limb pterygium syndromes: a review and report of eleven patients. 61
7124793 1982
281
Teratogens associated with congenital contractures in humans and in animals. 61
7101197 1982
282
Concepts of multiple congenital contractures (arthrogryposis) in man and animals. 61
7101201 1982
283
Three distinct types of X-linked arthrogryposis seen in 6 families. 61
7200838 1982
284
Gastroschisis and congenital contractures: coincidence or syndrome? 61
6456337 1981
285
An approach to congenital contractures (arthrogryposis). 61
7022342 1981
286
[Arachnodactyly syndrome with congenital contractures]. 61
7285204 1981
287
Congenital abduction contracture with dislocation of the shoulder in children: report of two cases. 61
288411 1979
288
[Arachnodactylia with congenital contractures (C.C.A. syndrome)]. 61
967641 1976
289
Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. 61
1242211 1975
290
Marfan syndrome with congenital contractures. 61
132202 1975
291
Congenital contracture of the quadriceps muscle. Four case reports in identical twins. 61
4847228 1974
292
Bilateral congenital contracture of the ilio-tibial tract. 61
5053897 1972
293
[The technic of bladder neck myotomy and its results on the treatment of congenital contractures]. 61
5602870 1967
294
[Case report of congenital contracture of the rectus femoris muscle]. 61
6006966 1966
295
[Treatment of congenital contractures of the limbs in children]. 61
5868909 1965
296
[A case of congenital contracture of the bilateral elbow joints]. 61
5894350 1965
297
MULTIPLE CONGENITAL CONTRACTURE OF FINGERS. 61
14198382 1964
298
Multiple congenital contractures. Public health considerations of arthrogryposis multiplex congenita. 61
13979731 1963
299
[Surgery of the hand; new technic for correction of congenital contractures of the digital flexor muscles: intertendinous lengthening]. 61
13453200 1957
300
Congenital contracture of the vesical neck in children. 61
13131414 1953
301
Congenital contracture of the fifth finger. 61
18118045 1949

Variations for Congenital Contractures

ClinVar genetic disease variations for Congenital Contractures:

6 (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys)SNV Pathogenic 374164 rs1057518940 19:38990358-38990358 19:38499718-38499718
2 GLDN NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)SNV Pathogenic/Likely pathogenic 488521 rs775011495 15:51696600-51696600 15:51404403-51404403
3 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718
4 COL6A3 NM_057166.5(COL6A3):c.4147C>T (p.Arg1383Trp)SNV Conflicting interpretations of pathogenicity 285696 rs146546544 2:238271991-238271991 2:237363348-237363348
5 PIEZO2 NM_022068.3(PIEZO2):c.6314C>G (p.Pro2105Arg)SNV Uncertain significance 560383 rs1567961103 18:10698964-10698964 18:10698966-10698966
6 KIF1B NM_015074.3(KIF1B):c.1977+6205C>TSNV Uncertain significance 279823 rs771399291 1:10363509-10363509 1:10303451-10303451
7 PIEZO2 NM_022068.3(PIEZO2):c.8196A>G (p.Lys2732=)SNV Likely benign 560382 rs149395405 18:10671587-10671587 18:10671590-10671590

Expression for Congenital Contractures

Search GEO for disease gene expression data for Congenital Contractures.

Pathways for Congenital Contractures

GO Terms for Congenital Contractures

Cellular components related to Congenital Contractures according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 rough endoplasmic reticulum membrane GO:0030867 8.62 UBA1 PLOD1

Biological processes related to Congenital Contractures according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 skeletal muscle fiber development GO:0048741 8.96 RYR1 LMOD3
2 muscle contraction GO:0006936 8.92 TNNT3 RYR1 LMOD3 CHRNG

Molecular functions related to Congenital Contractures according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 tropomyosin binding GO:0005523 8.62 TNNT3 LMOD3

Sources for Congenital Contractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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