National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital contractural arachnodactyly

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Other Names:
Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; Beals-Hecht syndrome; CCA; Distal arthrogryposis type 9 See More
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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.[1][2][3] CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern.[1][2] 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.[1]
Last updated: 1/31/2017
The features of congenital contractural arachnodactyly (CCA) vary from person to person, both within and between families. The classic form is characterized by:[1] 
  • Marfan-like appearance (tall and slender with arm span longer than the person's height)
  • Arachnodactyly (long slender fingers and toes)
  • "Crumpled" ears
  • Contractures of major joints from birth (particularly knees, elbows, fingers, toes, and hips)
  • Bowed long bones
  • Muscular hypoplasia (underdeveloped muscles)
  • Kyphosis/scoliosis
  • 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.[1]

Last updated: 1/31/2017

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.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abnormally folded helix 0008544
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Arthrogryposis multiplex congenita 0002804
Camptodactyly of finger
Permanent flexion of the finger
0100490
Congenital kyphoscoliosis 0008453
Crumpled ear 0009901
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Slender build
Thin build
0001533
30%-79% of people have these symptoms
Disproportionate tall stature 0001519
5%-29% of people have these symptoms
Aortic aneurysm
Bulge in wall of large artery that carries blood away from heart
0004942
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Ectopia lentis 0001083
Intestinal malrotation 0002566
Mitral valve prolapse 0001634
Tracheoesophageal fistula 0002575
1%-4% of people have these symptoms
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
Hip contracture 0003273
Knee flexion contracture 0006380
Kyphoscoliosis 0002751
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Patellar dislocation
Dislocated kneecap
0002999
Pectus carinatum
Pigeon chest
0000768
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Percent of people who have these symptoms is not available through HPO
Adducted thumb
Inward turned thumb
0001181
Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
0002616
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 ] 		0001631
Autosomal dominant inheritance 0000006
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Brachycephaly
Short and broad skull
0000248
Calf muscle hypoplasia
Underdeveloped calf muscles
0008962
Distal arthrogryposis 0005684
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Frontal bossing 0002007
Metatarsus adductus
Front half of foot turns inward
0001840
Mitral regurgitation 0001653
Motor delay 0001270
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Osteopenia 0000938
Patellar subluxation
Partial knee cap dislocation
0010499
Patent ductus arteriosus 0001643
Scaphocephaly 0030799
Short neck
Decreased length of neck
0000470
Ulnar deviation of finger
Finger bends toward pinky
0009465
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020
Congenital contractural arachnodactyly (CCA) is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils hold molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN2 gene can reduce the amount and/or quality of fibrillin-2 that is available to form microfibrils. As a result, decreased microfibril formation weakens the elastic fibers and allows growth factors to be released inappropriately, causing tall stature, deformities of the fingers and toes, and other characteristic features of CCA.[1]

 

 

Last updated: 1/31/2017
This condition is inherited in an autosomal dominant pattern, which means one copy of the mutated gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new (de novo) mutations in the gene and occur in people with no history of the disorder in their family.[2]
Last updated: 1/31/2017

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.

Testing Resources

  • 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.
Physical therapy for joint contractures helps increase joint mobility and improve the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgery may be needed. Since the kyphosis/scoliosis tends to be progressive, bracing and/or surgical correction is often needed. Consultation with an orthopedist is encouraged. Other symptoms, if present, should be addressed as they arise. Regular physician visits should be scheduled to monitor symptom progression and development.[1]
Last updated: 1/31/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Congenital contractural arachnodactyly. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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.

Organizations Supporting this Disease

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.

Where to Start

  • 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.

In-Depth Information

  • 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.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My nephew has been diagnosed with Beals syndrome (also known as congenital contractural arachnodactyly). Can you provide me with information? See answer

  • I have Beals syndrome (congenital contractural arachnodactyly). I am a 19-year-old female and I was wondering how tall I would be because of this condition? The symptom is having a tall stature, but how tall? I'm 5'3 right now. See answer


  1. Godfrey M. Congenital Contractural Arachnodactyly. GeneReviews. February 23, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1386/.
  2. Congenital contractural arachnodactyly. Genetics Home Reference. July 2013; http://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly.
  3. 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.