{"Name":"Congenital contractural arachnodactyly","DiseaseID__c":"GARD:0005899","id":5899,"encodedName":"congenital-contractural-arachnodactyly","IsDeleted":false,"Disease_Name_Full__c":"Congenital contractural arachnodactyly","Xref_IDs__c":"205821003; C0220668; C129865; C536211; DOID:0111595; MEDGEN:67391; MONDO:0007363; NBK1386; OMIM:121050; ORPHA:115","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007363","Disease_Description__c":"A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.","GARD_Name__c":"Congenital contractural arachnodactyly","GARD_Synonym__c":"arthrogryposis, distal, type 9; beals hecht syndrome; beals syndrome; beals-hecht syndrome; cca; cca - congenital contractural arachnodactyly; cca syndrome; distal arthrogryposis type 9","Curated_Disease_Description_Source__c":"GARD:0005899","Curated_Disease_Description__c":"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. A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:115","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007363","ORPHANET_ID__c":"ORPHA:115","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aracnodactilia congénita contractural","Spanish_Description_Source__c":"ORPHA:115","Spanish_Description__c":"Es un trastorno poco frecuente del tejido conectivo caracterizado por múltiples contracturas en flexión, aracnodactilia, cifoescoliosis, pabellones auriculares anómalos e hipoplasia muscular.","Spanish_Disease_Name__c":"aracnodactilia congénita contractural","Spanish_GARD_Synonym__c":"artrogriposis distal tipo 9; síndrome acc; síndrome de beals; síndrome de beals-hecht","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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. A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.","Curated_Disease_Description_Source__c":"GARD:0005899","GARD_Synonym__c":"arthrogryposis, distal, type 9; beals hecht syndrome; beals syndrome; beals-hecht syndrome; cca; cca - congenital contractural arachnodactyly; cca syndrome; distal arthrogryposis type 9","Name":"Congenital contractural arachnodactyly","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"The Marfan Foundation","Website__c":"https://www.marfan.org/home"},{"Account_Name__c":"Genetic Aortic Disorders Association Canada","Website__c":"https://www.gadacanada.ca/"},{"Account_Name__c":"Scoliosis Research Society","Website__c":"https://www.srs.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:115"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220668"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005899","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1386","Source__c":"Gene Review","Xref__c":"NBK1386"},{"URL__c":"https://www.omim.org/entry/121050","Source__c":"C0220668; MONDO:0007363; ORPHA:115","Xref__c":"OMIM:121050"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129865","Source__c":"C0220668; MONDO:0007363","Xref__c":"C129865"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536211","Source__c":"MONDO:0007363","Xref__c":"C536211"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220668","Source__c":"C0220668","Xref__c":"C0220668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=67391","Source__c":"C0220668","Xref__c":"MEDGEN:67391"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205821003","Source__c":"C0220668; MONDO:0007363","Xref__c":"205821003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111595","Source__c":"MONDO:0007363","Xref__c":"DOID:0111595"},{"URL__c":"https://www.orpha.net/en/disease/detail/115","Source__c":"C0220668; MONDO:0007363; ORPHA:115","Xref__c":"ORPHA:115"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly","Source__c":"GARD:0005899","Xref__c":"https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007363","Source__c":"GARD:0005899","Xref__c":"MONDO:0007363"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FBN2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fbn2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009901","HPO_Synonym__c":"Crumpled ear","HPO_Name__c":"Crumpled ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003011","HPO_Synonym__c":"Muscular abnormality","HPO_Name__c":"Abnormality of the musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001533","HPO_Synonym__c":"Asthenic habitus; Slender build; Thin body habitus; Thin build","HPO_Name__c":"Slender build","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001083","HPO_Synonym__c":"Abnormality of lens position; Lens dislocation","HPO_Name__c":"Ectopia lentis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004942","HPO_Synonym__c":"Aortic dilatation; Bulge in wall of large artery that carries blood away from heart; Enlarged aorta","HPO_Name__c":"Aortic aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002803","HPO_Synonym__c":"congenital contractures; Congenital joint contractures","HPO_Name__c":"Congenital contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001519","HPO_Synonym__c":"Dolichostenomelia; Marfanoid body habitus; Marfanoid habitus; Reduced upper-lower segment ratio","HPO_Name__c":"Disproportionate tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple congenital contractures in different body areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002804","HPO_Synonym__c":"Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures","HPO_Name__c":"Arthrogryposis multiplex congenita","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008544","HPO_Name__c":"Abnormally folded helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008453","HPO_Name__c":"Congenital kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002247","HPO_Synonym__c":"Absence or narrowing of first part of small bowel","HPO_Name__c":"Duodenal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:115","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["arthrogryposis, distal, type 9"," beals hecht syndrome"," beals syndrome"," beals-hecht syndrome"," cca"," cca - congenital contractural arachnodactyly"," cca syndrome"," distal arthrogryposis type 9"],"spanishId":13210,"spanishName":"aracnodactilia-congenita-contractural"}