MCID: CNT099
MIFTS: 41

Contractural Arachnodactyly, Congenital

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Ear diseases

Aliases & Classifications for Contractural Arachnodactyly, Congenital

MalaCards integrated aliases for Contractural Arachnodactyly, Congenital:

Name: Contractural Arachnodactyly, Congenital 54 25 13
Congenital Contractural Arachnodactyly 23 50 24 25 56 71 29
Beals Syndrome 23 50 24 25 56 71
Beals-Hecht Syndrome 23 50 24 25 56
Cca 50 24 25 71
Contractures, Multiple with Arachnodactyly 50 24
Arachnodactyly, Contractural Beals Type 50 24
Distal Arthrogryposis Type 9 50 56
Da9 25 71
Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis 50
Arthrogyroposis, Distal, Type 9 25
Distal Arthrogyropsis Type 9 25
Arthrogryposis, Distal, 9 71
Cca Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
congenital contractural arachnodactyly
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
contractural arachnodactyly, congenital:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is complete...

Classifications:



Summaries for Contractural Arachnodactyly, Congenital

Genetics Home Reference : 25 Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened.

MalaCards based summary : Contractural Arachnodactyly, Congenital, also known as congenital contractural arachnodactyly, is related to bile duct carcinoma and marfan syndrome, and has symptoms including arthrogryposis multiplex congenita, joint stiffness and duodenal atresia. An important gene associated with Contractural Arachnodactyly, Congenital is FBN2 (Fibrillin 2). The drugs Atenolol and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes.

NIH Rare Diseases : 50 congenital contractural arachnodactyly (cca) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears; and curvature of the spine (kyphoscoliosis). enlargement (dilation) of the aorta and other features might also be present in some affected people. cca is caused by mutations in a gene called fbn2 gene and is inherited in an autosomal dominant pattern. cca shares similiar signs and symptoms to marfan syndrome; however, marfan syndrome is not caused by mutations in the fbn2 gene. treatment includes physical therapy or surgery for joint contractures, bracing and/or surgery for kyphoscoliosis, and standard management of aortic root dilation. last updated: 1/31/2017

UniProtKB/Swiss-Prot : 71 Arthrogryposis, distal, 9: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.

OMIM : 54
Congenital contractural arachnodactyly is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). It shares overlapping features with Marfan syndrome (154700), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; 134797). (121050)

Wikipedia : 72 Beals syndrome (congenital contractural arachnodactyly, Beals–Hecht syndrome) is a rare congenital... more...

GeneReviews: NBK1386

Related Diseases for Contractural Arachnodactyly, Congenital

Diseases related to Contractural Arachnodactyly, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
id Related Disease Score Top Affiliating Genes
1 bile duct carcinoma 11.4
2 marfan syndrome 11.3
3 trismus-pseudocamptodactyly syndrome 11.2
4 cholangiocarcinoma, susceptibility to 11.0
5 klatskin's tumor 10.8
6 congenital contractures 10.3
7 schistosomiasis 10.1
8 whiplash 10.0
9 intestinal schistosomiasis 9.9
10 urinary schistosomiasis 9.9
11 acanthoma 9.7
12 hepatitis c 9.7
13 adenocarcinoma 9.7
14 embryonal rhabdomyosarcoma 9.7
15 rhabdomyosarcoma 9.7
16 clear cell adenocarcinoma 9.7
17 atherosclerosis 9.7
18 hepatitis 9.7
19 maturity-onset diabetes of the young 9.7
20 carotid stenosis 9.7
21 clear cell acanthoma 9.7

Graphical network of the top 20 diseases related to Contractural Arachnodactyly, Congenital:



Diseases related to Contractural Arachnodactyly, Congenital

Symptoms & Phenotypes for Contractural Arachnodactyly, Congenital

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
myopia
ectopia lentis

Cardiovascular- Vascular:
patent ductus arteriosus
aortic root dilatation

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal:
osteopenia

Skeletal- Feet:
metatarsus varus
talipes equinovarus (32%)

Head And Neck- Ears:
crumpled ear (76%)
poorly defined conchae
prominent crura
folded helices

Head And Neck- Neck:
relatively short neck

Skeletal- Pelvis:
hip contractures (25%)

Muscle Soft Tissue:
hypoplastic calf muscles

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
mitral valve prolapse
bicuspid aortic valve
mitral regurgitation

Head And Neck- Face:
frontal bossing
micrognathia (27%)

Skeletal- Hands:
camptodactyly
adducted thumbs
arachnodactyly
ulnar deviation of fingers
flexion contractures of proximal interphalangeal joints

Head And Neck- Head:
brachycephaly
scaphocephaly
dolichocephaly

Growth- Other:
marfanoid habitus
dolichostenomelia

Head And Neck- Mouth:
high-arched palate (28%)

Skeletal- Spine:
congenital kyphoscoliosis (45%)

Skeletal- Limbs:
elbow contractures (86%)
knee contractures (81%)
subluxation of patella

Neurologic- Central Nervous System:
motor developmental delay


Clinical features from OMIM:

121050

Human phenotypes related to Contractural Arachnodactyly, Congenital:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0002804
2 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 duodenal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002247
4 intestinal malrotation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002566
5 high palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000218
6 mitral valve prolapse 56 32 occasional (7.5%) Occasional (29-5%) HP:0001634
7 arachnodactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001166
8 slender build 56 32 hallmark (90%) Very frequent (99-80%) HP:0001533
9 tracheoesophageal fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0002575
10 ectopia lentis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001083
11 aortic dilatation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001724
12 abnormally folded helix 56 32 hallmark (90%) Very frequent (99-80%) HP:0008544
13 disproportionate tall stature 56 32 frequent (33%) Frequent (79-30%) HP:0001519
14 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
15 congenital kyphoscoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008453
16 crumpled ear 56 32 very rare (1%) Very frequent (99-80%) HP:0009901
17 scoliosis 56 Very frequent (99-80%)
18 myopia 32 HP:0000545
19 micrognathia 32 very rare (1%) HP:0000347
20 atrial septal defect 32 HP:0001631
21 patent ductus arteriosus 32 HP:0001643
22 kyphoscoliosis 32 very rare (1%) HP:0002751
23 frontal bossing 32 HP:0002007
24 pectus carinatum 32 HP:0000768
25 talipes equinovarus 32 very rare (1%) HP:0001762
26 short neck 32 HP:0000470
27 ventricular septal defect 32 HP:0001629
28 motor delay 32 HP:0001270
29 osteopenia 32 HP:0000938
30 brachycephaly 32 HP:0000248
31 elbow flexion contracture 32 very rare (1%) HP:0002987
32 knee flexion contracture 32 very rare (1%) HP:0006380
33 aortic root dilatation 32 HP:0002616
34 dolichocephaly 32 HP:0000268
35 metatarsus adductus 32 HP:0001840
36 bicuspid aortic valve 32 HP:0001647
37 mitral regurgitation 32 HP:0001653
38 patellar dislocation 32 HP:0002999
39 distal arthrogryposis 32 HP:0005684
40 patellar subluxation 32 HP:0010499
41 adducted thumb 32 HP:0001181
42 flexion contracture 56 Very frequent (99-80%)
43 malformation of the heart and great vessels 56 Occasional (29-5%)
44 abnormality of the musculature 56 Very frequent (99-80%)
45 ulnar deviation of finger 32 HP:0009465
46 hip contracture 32 very rare (1%) HP:0003273
47 congenital contracture 56 Very frequent (99-80%)
48 calf muscle hypoplasia 32 HP:0008962

Drugs & Therapeutics for Contractural Arachnodactyly, Congenital

Drugs for Contractural Arachnodactyly, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
2
Perindopril Approved Phase 4,Phase 3 107133-36-8, 82834-16-0 107807
3
Verapamil Approved Phase 4 52-53-9 2520
4 Adrenergic Agents Phase 4,Phase 3,Phase 2
5 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
6 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 3,Phase 2
7 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2
8 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
9 Antihypertensive Agents Phase 4,Phase 3,Phase 2
10 Autonomic Agents Phase 4,Phase 3,Phase 2
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
13 Sympatholytics Phase 4,Phase 3,Phase 2
14 Vasodilator Agents Phase 4,Phase 3,Phase 2
15 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3
16 calcium channel blockers Phase 4
17 Calcium, Dietary Phase 4
18 HIV Protease Inhibitors Phase 4,Phase 3
19
protease inhibitors Phase 4,Phase 3
20
Losartan Approved Phase 3,Phase 2 114798-26-4 3961
21
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
22
Angiotensin II Investigational Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
23 Angiotensin II Type 1 Receptor Blockers Phase 3,Phase 2
24 Angiotensin Receptor Antagonists Phase 3,Phase 2
25 Angiotensinogen Phase 3,Phase 2
26 Adrenergic Agonists Phase 3
27 Adrenergic beta-Agonists Phase 3
28 Mitogens Phase 3
29
Propranolol Approved, Investigational Phase 2 525-66-6 4946
30
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
31
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
32 Anti-Bacterial Agents Phase 2
33 Anti-Infective Agents Phase 2
34 Antimalarials Phase 2
35 Antiparasitic Agents Phase 2
36 Antiprotozoal Agents Phase 2
37 Anesthetics

Interventional clinical trials:

(show all 24)

id Name Status NCT ID Phase Drugs
1 Comparison of Medical Therapies in Marfan Syndrome. Completed NCT01295047 Phase 4 Atenolol;VERAPAMIL;Perindopril
2 Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome Unknown status NCT01145612 Phase 3 Losartan;Atenolol
3 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3 Losartan;Placebo
4 Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients Unknown status NCT00683124 Phase 3 Losartan and nebivolol;Losartan;Nebivolol
5 Angiotensin Converting Enzyme Inhibitors in Marfan Syndrome Completed NCT00485368 Phase 3 Coversyl (perindopril)
6 Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart Network Completed NCT00429364 Phase 3 Losartan Potassium;Atenolol
7 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
8 Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS Completed NCT01715207 Phase 3 Aliskiren;Atenolol
9 Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
10 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
11 A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome Unknown status NCT00651235 Phase 2 Losartan and Atenolol or Propranolol;Atenolol or Propranolol
12 Losartan Versus Atenolol for the Treatment of Marfan Syndrome Completed NCT00593710 Phase 2 Losartan;Atenolol
13 The Oxford Marfan Trial Recruiting NCT01949233 Phase 2 Irbesartan 150-300mg capsules daily for 6 months;Doxycycline 100-200mg capsules daily for 6 months;Doxycycline placebo capsules daily for 6 months;Irbesartan placebo capsules daily for 6 months
14 Thoracic Aortic Dilatation Syndromes Unknown status NCT02111668
15 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
16 Clinical Variability in Marfan Syndrome Completed NCT01707563
17 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
18 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
19 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
20 Study of Heritable Connective Tissue Disorders Completed NCT00001641
21 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Recruiting NCT02815072
22 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
23 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome. Not yet recruiting NCT03236571
24 Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart Disease Withdrawn NCT01300221

Search NIH Clinical Center for Contractural Arachnodactyly, Congenital

Genetic Tests for Contractural Arachnodactyly, Congenital

Genetic tests related to Contractural Arachnodactyly, Congenital:

id Genetic test Affiliating Genes
1 Congenital Contractural Arachnodactyly 29 24 FBN2

Anatomical Context for Contractural Arachnodactyly, Congenital

MalaCards organs/tissues related to Contractural Arachnodactyly, Congenital:

39
Heart, Bone, Testes

Publications for Contractural Arachnodactyly, Congenital

Variations for Contractural Arachnodactyly, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Contractural Arachnodactyly, Congenital:

71 (show all 28)
id Symbol AA change Variation ID SNP ID
1 FBN2 p.Cys1253Tyr VAR_002350 rs137852825
2 FBN2 p.Cys1434Ser VAR_002351
3 FBN2 p.Asp1115His VAR_010739 rs137852827
4 FBN2 p.Cys1142Phe VAR_010740 rs137852828
5 FBN2 p.Cys1253Trp VAR_010741 rs28931602
6 FBN2 p.Glu391Lys VAR_015851 rs137852826
7 FBN2 p.Gly1057Asp VAR_054981
8 FBN2 p.Ile1093Thr VAR_054982
9 FBN2 p.Gly1179Cys VAR_054983
10 FBN2 p.Cys1198Tyr VAR_054984 rs863223567
11 FBN2 p.Cys1240Arg VAR_054985
12 FBN2 p.Cys1257Trp VAR_054986
13 FBN2 p.Cys1268Arg VAR_054987
14 FBN2 p.Gly754Ser VAR_058364 rs145259927
15 FBN2 p.Asn1091Ser VAR_058365
16 FBN2 p.Ser1122Pro VAR_058366
17 FBN2 p.Cys1142Arg VAR_058367
18 FBN2 p.Tyr1146Cys VAR_058368
19 FBN2 p.Cys1156Phe VAR_058369
20 FBN2 p.Glu1161Lys VAR_058370
21 FBN2 p.Cys1246Phe VAR_058371
22 FBN2 p.Cys1384Phe VAR_058372
23 FBN2 p.Cys1384Tyr VAR_058373 rs794727560
24 FBN2 p.Asp1408Asn VAR_058374
25 FBN2 p.Cys1425Arg VAR_058375
26 FBN2 p.Asn1259Lys VAR_072653 rs267606802
27 FBN2 p.Cys1406Arg VAR_074052
28 FBN2 p.Cys1257Arg VAR_076482

ClinVar genetic disease variations for Contractural Arachnodactyly, Congenital:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN2 NM_001999.3(FBN2): c.3758G> A (p.Cys1253Tyr) single nucleotide variant Pathogenic rs137852825 GRCh37 Chromosome 5, 127671236: 127671236
2 FBN2 NM_001999.3(FBN2): c.1171G> A (p.Glu391Lys) single nucleotide variant Pathogenic rs137852826 GRCh37 Chromosome 5, 127730875: 127730875
3 FBN2 NM_001999.3(FBN2): c.4346-2A> T single nucleotide variant Pathogenic rs587776518 GRCh38 Chromosome 5, 128328823: 128328823
4 FBN2 NM_001999.3(FBN2): c.3725-15A> G single nucleotide variant Pathogenic rs587776519 GRCh38 Chromosome 5, 128335592: 128335592
5 FBN2 FBN2, IVS30, G-T, -26 single nucleotide variant Pathogenic
6 FBN2 NM_001999.3(FBN2): c.3343G> C (p.Asp1115His) single nucleotide variant Pathogenic rs137852827 GRCh37 Chromosome 5, 127680077: 127680077
7 FBN2 NM_001999.3(FBN2): c.3425G> T (p.Cys1142Phe) single nucleotide variant Pathogenic rs137852828 GRCh37 Chromosome 5, 127674672: 127674672
8 FBN2 NM_001999.3(FBN2): c.3759T> G (p.Cys1253Trp) single nucleotide variant Pathogenic rs28931602 GRCh37 Chromosome 5, 127671235: 127671235
9 FBN2 NM_001999.3(FBN2): c.3777T> A (p.Asn1259Lys) single nucleotide variant Pathogenic rs267606802 GRCh37 Chromosome 5, 127671217: 127671217
10 FBN2 NM_001999.3(FBN2): c.3344A> T (p.Asp1115Val) single nucleotide variant Likely pathogenic rs869025428 GRCh37 Chromosome 5, 127674753: 127674753
11 FBN2 NM_001999.3(FBN2): c.7630C> T (p.Gln2544Ter) single nucleotide variant Likely pathogenic rs1085307066 GRCh38 Chromosome 5, 128274648: 128274648
12 FBN2 NM_001999.3(FBN2): c.2945G> T (p.Cys982Phe) single nucleotide variant Likely pathogenic rs1057519321 GRCh37 Chromosome 5, 127685083: 127685083
13 FBN1 NM_000138.4(FBN1): c.6004C> T (p.Pro2002Ser) single nucleotide variant Likely pathogenic rs1057519320 GRCh38 Chromosome 15, 48444574: 48444574
14 FBN2 NC_000005.10: g.(?_128318149)_(128319001_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 128318149: 128319001
15 FBN2 NM_001999.3(FBN2): c.4285C> A (p.Pro1429Thr) single nucleotide variant Likely pathogenic rs1060503511 GRCh38 Chromosome 5, 128330633: 128330633
16 FBN2 NM_001999.3(FBN2): c.4222+1G> A single nucleotide variant Likely pathogenic rs1060503498 GRCh38 Chromosome 5, 128332911: 128332911

Expression for Contractural Arachnodactyly, Congenital

Search GEO for disease gene expression data for Contractural Arachnodactyly, Congenital.

Pathways for Contractural Arachnodactyly, Congenital

GO Terms for Contractural Arachnodactyly, Congenital

Sources for Contractural Arachnodactyly, Congenital

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