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|
|Abnormality of the clavicle||
Stiff joints[ more ]
Claw hand deformities
Split-hand[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the metacarpal bones||
Abnormality of the long bone of hand
|Aplasia/Hypoplasia of the radius||0006501|
|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 ]
|First degree atrioventricular block||0011705|
Round back[ more ]
|Paroxysmal atrial fibrillation||0004757|
Abnormal curving of the spine
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
|5%-29% of people have these symptoms|
|Abnormal aortic morphology||0001679|
|Abnormality of the humerus||0003063|
|Abnormality of the ribs||
|Anomalous pulmonary venous return||0010772|
|Atrioventricular canal defect||0006695|
Wide/broad thumb[ more ]
Rounded, sloping shoulders
Sloping shoulders[ more ]
|Hypoplastic left heart||
Underdeveloped left heart
|Patent ductus arteriosus||0001643|
Fused forearm bones
High shoulder blade
|1%-4% of people have these symptoms|
Missing outer large bone of forearm
|Aplasia of the pectoralis major muscle||0009751|
|Aplasia of the ulna||0003982|
|Hypoplasia of the radius||
Underdeveloped outer large forearm bone
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
|Limited elbow extension||
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension[ more ]
|Secundum atrial septal defect||0001684|
Short long bone of upper arm
Short upper arms[ more ]
|Small thenar eminence||0001245|
Webbed fingers or toes
|Percent of people who have these symptoms is not available through HPO|
|Abnormal vertebral morphology||0003468|
|Abnormality of the carpal bones||0001191|
Partial duplication of the thumb bones
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
Differential diagnosis includes heart-hand syndrome type 2, heart-hand syndrome type 3, brachydactyly-long thumb, SAL4-related disorders (Okihiro and acro-renal-ocular syndrome), ulnar-mammary syndrome, Slovenian type heart-hand syndrome, Fanconi anemia, distal 22q11.2 microdeletion syndrome, VACTERL association, thalidomide embryopathy, fetal valproate syndrome (see these terms) and other in utero teratogen exposure.
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.