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 |
Long slender fingers
Spider 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 | 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 |
| 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 |
| 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 dislocation |
Dislocated kneecap
|
0002999 |
| Patellar subluxation |
Partial knee cap dislocation
|
0010499 |
| Patent ductus arteriosus | 0001643 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| 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 |
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.
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.
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.
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.
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.
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
