eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital contractural arachnodactyly | ||||
| Disease ID | 956 |
|---|---|
| Disease | congenital contractural arachnodactyly |
| Definition | CCA encompasses a broad range of symptoms. The specific symptoms that develop in each individual case and the severity of symptoms often vary. Most individuals have permanent fixation of certain joints in a flexed position (contractures) that is present a birth (congenital). The joints of the fingers, elbows, knees, and hips are most often affected. In most cases, contractures improve with age.In some cases, affected infants have abnormally shaped ears giving them a crumpled appearance. Additional common symptoms include abnormally long, slender fingers and toes (arachnodactyly), permanently flexed fingers (camptodactyly), underdevelopment of certain muscles (muscular hypoplasia), and front-to-back and side-to-side curvature of the spine (kyphoscoliosis). Kyphoscoliosis is usually progressive and severe, often necessitating surgery.In some cases, a specific heart defect known as mitral valve prolapse (MVP) may occur. The mitral valve is located between the left upper and left lower chambers (left atrium and left ventricle) of the heart. MVP occurs when one or both of the flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left atrium during ventricular contraction (systole). In some cases, this may allow leakage or the backward flow of blood from the left ventricle back into the left atrium (mitral regurgitation). In some case, no associated symptoms are apparent (asymptomatic). However, in other cases, MVP can result in chest pain, abnormal heart rhythms (arrhythmias), fatigue, dizziness, and/or other symptoms and signs.Less common symptoms may occur in some cases. Additional abnormalities affecting the head and face (craniofacial) region include an abnormally small jaw (micrognathia), a prominent forehead (frontal bossing), a highly arched palate, a long narrow head (dolichocephaly or scaphocephaly), or an abnormally wide head (brachycephaly). Nearsightedness (myopia) affecting the eyes may also occur.Some individuals may have an abnormally short neck. In some cases, affected individuals may have a clubbed foot, inwardly clasped (adducted thumbs), and bowed long bones of the arms and leg.In extremely rare cases, individuals with CCA may develop a severe form of the disorder associated with life-threatening complications. This severe form of CCA is associated with various heart and intestinal abnormalities including atrial and ventricular septal defects; improper development of the aorta resulting in blockage of blood flow (interrupted aortic arch), a single umbilical artery; a condition in which the tube (esophagus) that normally carries food from the mouth to the stomach narrows to a thin cord or ends in a pouch rather than providing passage to the stomach (esophageal atresia), abnormal closure or blockage of the first part of the small intestine (duodenal atresia), and obstruction of the intestines due to malformation of part of the intestines (intestinal malrotation).Rarer still, CCA may be associated with aortic root dilatation, a condition characterized by widening (dilatation) of the opening where the aorta and the heart chamber connect (aortic root). - NORD Reference: NORD |
| Synonym | arachnodactyly, contractural beals type arthrogryposis, distal, type 9 beal's syndrome beals syndrome beals-hecht syndrome cca cca - congenital contractural arachnodactyly congenital contractural arachnodactyly (disorder) contractural arachnodactyly, congenital contractures, multiple with arachnodactyly da9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis |
| Orphanet | |
| OMIM | |
| UMLS | C0220668 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) FBN2 | 5q23.3 |
| Disease ID | 956 |
|---|---|
| Disease | congenital contractural arachnodactyly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:52) HP:0005684 | Distal arthrogryposis HP:0000938 | Decreased bone mineral density HP:0009901 | Crumpled ear HP:0001181 | Adducted thumbs HP:0000347 | Hypoplasia of mandible HP:0001166 | Arachnodactyly HP:0001519 | Disproportionate tall stature HP:0000248 | Brachycephaly HP:0001840 | Forefoot varus HP:0001166 | Long, slender fingers HP:0001519 | Dolichostenomelia HP:0000218 | High palate HP:0001533 | Slender build HP:0002999 | Dislocated kneecap HP:0001083 | Dislocated lenses HP:0001629 | Ventricular septal defects HP:0002575 | Tracheoesophageal fistula HP:0008544 | Abnormally folded helix HP:0000470 | Decreased cervical height HP:0002247 | Duodenal atresia HP:0001724 | Aortic dilatation HP:0001371 | Flexion contracture HP:0003011 | Abnormality of the musculature HP:0002564 | Malformation of the heart and great vessels HP:0001762 | Talipes equinovarus HP:0008962 | Hypoplastic calf muscles HP:0006380 | Contractures of knees HP:0002007 | Frontal protruberance HP:0009465 | Medially deviated fingers HP:0001270 | Motor retardation HP:0002804 | Arthrogryposis multiplex congenita HP:0002803 | Congenital contracture HP:0002751 | Kyphoscoliosis HP:0000545 | Near sightedness HP:0001653 | Mitral valve insufficiency HP:0001643 | Persistent ductus arteriosus HP:0001647 | Bicuspid aortic valve HP:0000218 | Increased palatal height HP:0002650 | Scoliosis HP:0000268 | Dolichocephaly HP:0002616 | Aortic root dilatation HP:0002987 | Elbow contracture HP:0001634 | Mitral valve prolapse HP:0001083 | Ectopia lentis HP:0001387 | Joint stiffness HP:0003273 | Flexion contracture of hips HP:0008453 | Congenital kyphoscoliosis HP:0002566 | Intestinal malrotation HP:0100490 | Camptodactyly of finger HP:0000768 | Pectus carinatum HP:0010499 | Subluxation of patella HP:0001631 | Atria septal defect |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 956 |
|---|---|
| Disease | congenital contractural arachnodactyly |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852825 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128335544 | C | T |
| rs137852826 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128395182 | C | T |
| rs137852827 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128344385 | C | G |
| rs137852828 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128338980 | C | A |
| rs267606802 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128335525 | A | T |
| rs28931602 | 10797416 | 2201 | FBN2 | umls:C0220668 | UNIPROT | Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. | 0.57078173 | 2000 | FBN2 | 5 | 128335543 | A | C |
| rs28931602 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128335543 | A | C |
| rs587776518 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128328823 | T | A |
| rs587776519 | NA | 2201 | FBN2 | umls:C0220668 | CLINVAR | NA | 0.57078173 | NA | FBN2 | 5 | 128335592 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0100490 | Camptodactyly of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0003011 | Abnormality of the musculature | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0001083 | Ectopia lentis | MP:0005263 | ectopia lentis | congenital displacement of the lens due to defective zonule formation |
| HP:0009465 | Ulnar deviation of finger | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0008962 | Calf muscle hypoplasia | MP:0009404 | centrally nucleated skeletal muscle fibers | cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy |
| HP:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0002247 | Duodenal atresia | MP:0003130 | anal atresia | congenital absence of an anal opening due to the persistence of the epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal |
| HP:0001647 | Bicuspid aortic valve | MP:0010620 | thick mitral valve | an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness |
Mapped by homologous gene(Total Items:47) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000268 | Dolichocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0009465 | Ulnar deviation of finger | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0001647 | Bicuspid aortic valve | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002247 | Duodenal atresia | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002616 | Aortic root dilatation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009901 | Crumpled ear | MP:0010053 | decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| HP:0003011 | Abnormality of the musculature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008962 | Calf muscle hypoplasia | MP:0010053 | decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| HP:0003273 | Hip contracture | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002803 | Congenital contracture | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008453 | Congenital kyphoscoliosis | MP:0010053 | decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| HP:0006380 | Knee flexion contracture | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001643 | Patent ductus arteriosus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000768 | Pectus carinatum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001724 | Aortic dilatation | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005684 | Distal arthrogryposis | MP:0011906 | increased Schwann cell proliferation | increase in the expansion rate of a Schwann cell population by cell division |
| HP:0002987 | Elbow flexion contracture | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008544 | Abnormally folded helix | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002575 | Tracheoesophageal fistula | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001840 | Metatarsus adductus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001533 | Slender build | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010499 | Patellar subluxation | MP:0010053 | decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001653 | Mitral regurgitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001181 | Adducted thumb | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002007 | Frontal bossing | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002999 | Patellar dislocation | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0001083 | Ectopia lentis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001519 | Disproportionate tall stature | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| Disease ID | 956 |
|---|---|
| Disease | congenital contractural arachnodactyly |
| Case | (Waiting for update.) |