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Disease Profile

Congenital contractural arachnodactyly

Prevalence
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.

Unknown

Age of onset

Neonatal

ICD-10

Q68.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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]

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
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormally folded helix
0008544
Arachnodactyly
Spider fingers
Long slender 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

Cause

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]

 

 

Diagnosis

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.

    Treatment

    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]

    Organizations

    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

      Learn more

      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.

            References

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

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