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]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormally folded helix | Very frequent (present in 80%-99% of cases) |
| Arachnodactyly | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Very frequent (present in 80%-99% of cases) |
| Congenital kyphoscoliosis | Very frequent (present in 80%-99% of cases) |
| Crumpled ear | Very frequent (present in 80%-99% of cases) |
| High palate | Very frequent (present in 80%-99% of cases) |
| Joint stiffness | Very frequent (present in 80%-99% of cases) |
| Slender build | Very frequent (present in 80%-99% of cases) |
| Disproportionate tall stature | Frequent (present in 30%-79% of cases) |
| Aortic dilatation | Occasional (present in 5%-29% of cases) |
| Duodenal atresia | Occasional (present in 5%-29% of cases) |
| Ectopia lentis | Occasional (present in 5%-29% of cases) |
| Intestinal malrotation | Occasional (present in 5%-29% of cases) |
| Mitral valve prolapse | Occasional (present in 5%-29% of cases) |
| Tracheoesophageal fistula | Occasional (present in 5%-29% of cases) |
| Elbow flexion contracture | Very rare (present in 1%-4% of cases) |
| Hip contracture | Very rare (present in 1%-4% of cases) |
| Knee flexion contracture | Very rare (present in 1%-4% of cases) |
| Kyphoscoliosis | Very rare (present in 1%-4% of cases) |
| Micrognathia | Very rare (present in 1%-4% of cases) |
| Talipes equinovarus | Very rare (present in 1%-4% of cases) |
| Adducted thumb | - |
| Aortic root dilatation | - |
| Atrial septal defect | - |
| - | |
| Bicuspid aortic valve | - |
| Brachycephaly | - |
| Calf muscle hypoplasia | - |
| Distal arthrogryposis | - |
| Dolichocephaly | - |
| Frontal bossing | - |
| Metatarsus adductus | - |
| Mitral regurgitation | - |
| Motor delay | - |
| Myopia | - |
| Osteopenia | - |
| Patellar dislocation | - |
| Patellar subluxation | - |
| Patent ductus arteriosus | - |
| Pectus carinatum | - |
| Short neck | - |
| Ulnar deviation of finger | - |
| Ventricular septal defect | - |
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.
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.
Genetic Analysis of Limb Malformation Disorders
Bamshad Laboratory
University of Washington SOM
Department of Pediatrics
Division of Genetics & Developmental Medicine
1959 NE Pacific St. HSB RR349 B
Seattle, WA 98195-6320 USA
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare 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.
The following diseases are related to Congenital contractural arachnodactyly. If you have a question about any of these diseases, you can contact GARD.
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
