Congenital contractural arachnodactyly
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly;
Congenital and Genetic Diseases; Musculoskeletal Diseases
- Marfan-like appearance (tall and slender with arm span longer than the person's height)
- Arachnodactyly (long slender fingers and toes)
- "Crumpled" ears
Contracturesof major joints from birth (particularly knees, elbows, fingers, toes, and hips)
- Bowed long bones
- Muscular hypoplasia (underdeveloped muscles)
- Aortic root dilation
- Craniofacial abnormalities (such as
micrognathia; high arched palate; scaphocephaly (premature fusion of the sagittal suture of the skull leading to a long, narrow head); brachycephaly (premature fusion of the coronal suture, leading to a short skull); and frontal bossing).
Severe forms of CCA are very rare, with very few reported cases. In addition to the typical skeletal findings (arachnodactyly, joint contractures, and scoliosis) and abnormally shaped ears, infants with the severe/lethal form have many cardiovascular and gastrointestinal abnormalities.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormally folded helix||0008544|
Long slender fingers
[ more ]
|Arthrogryposis multiplex congenita||0002804|
|Camptodactyly of finger||
Permanent flexion of the finger
Increased palatal height
[ more ]
[ more ]
|30%-79% of people have these symptoms|
|Disproportionate tall stature||0001519|
|5%-29% of people have these symptoms|
Bulge in wall of large artery that carries blood away from heart
Absence or narrowing of first part of small bowel
|Mitral valve prolapse||0001634|
|1%-4% of people have these symptoms|
|Elbow flexion contracture||
Contractures of elbows
[ more ]
|Knee flexion contracture||0006380|
Little lower jaw
Small lower jaw
[ more ]
[ more ]
|Percent of people who have these symptoms is not available through HPO|
Inward turned thumb
|Aortic root aneurysm||
Bulge in wall of root of large artery that carries blood away from heart
|Atrial septal defect||
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|Bicuspid aortic valve||
Aortic valve has two leaflets rather than three
Short and broad skull
|Calf muscle hypoplasia||
Underdeveloped calf muscles
Long, narrow head
Tall and narrow skull
[ more ]
Front half of foot turns inward
[ more ]
Partial knee cap dislocation
|Patent ductus arteriosus||0001643|
Decreased length of neck
|Ulnar deviation of finger||
Finger bends toward pinky
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the elbow, knee, and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in MFS.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Genetic Aortic Disorders Association Canada (GADA Canada)
Centre Plaza Postal Outlet
128 Queen Street South
P.O. Box 42257
Mississauga Ontario L5M 4Z0
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Congenital contractural arachnodactyly. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The The Marfan Foundation offers an information page on Congenital contractural arachnodactyly. Please click on the link to access this resource.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital contractural arachnodactyly. Click on the link to view a sample search on this topic.
- Godfrey M. Congenital Contractural Arachnodactyly. GeneReviews. February 23, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1386/.
- Congenital contractural arachnodactyly. Genetics Home Reference. July 2013; https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly.
- Takeda N & cols. Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. Am J Med Genet A. October, 2015; 167A(10):2382-7. https://www.ncbi.nlm.nih.gov/pubmed/25975422.