Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk. The involvement of the condition ranges from a single limb to both upper and lower limbs. In many cases, the underlying cause of Phocomelia is poorly understood. It can be inherited as part of a genetic syndrome. Phocomelia can also be caused by maternal exposure to certain drugs (such as thalidomide) during pregnancy.
Estimated Number of People with this Disease
In the U.S. there may be between
300 to 3,000
What Information Does GARD Have For This Disease?
Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:
*Data may be currently unavailable to GARD at this time.
These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom. This disease might cause these symptoms:
Cardiovascular System
16 Symptoms
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Cardiovascular System
The cardiovascular system is made up of the heart and blood vessels, including the arteries, veins, and capillaries. Common symptoms of problems in the cardiovascular system include high blood pressure, heart rate or heart rhythm problems, chest pain or discomfort, pain or tingling in the hands or feet, and fatigue. Diseases of the cardiovascular system may be diagnosed and treated by a cardiologist.
Medical Term
Abnormal cardiac septum morphology
Frequency: Occasional
Description
An anomaly of the intra-atrial or intraventricular septum.
An anomaly of the intra-atrial or intraventricular septum.
Synonym
Septal defects
Septal defects
16 Symptoms
Causes
This section is currently in development.
Next Steps
Talking with the Medical Team
Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.
Describing Symptoms
Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.
To help describe a symptom:
Use a smartphone or a notebook to record each symptom before the appointment
Describe each symptom by answering the following questions:
When did the symptom start?
How often does it happen?
Does anything make it better or worse?
Tell the medical team whether any symptoms affect daily activities
Preparing for the First Visit
Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.
Make informed decisions about health care:
Prepare a list of questions and concerns before the appointment
List the most important questions first, not all questions may be answered in the first visit
Ask questions about symptoms, possible diagnoses, tests, and treatment options
For future appointments:
Discuss what was not addressed at the last visit
Discuss changes in the quality of life for the patient, family, and caregivers
Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
Take notes during the appointments to help remember what was discussed.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.