Disease at a Glance

Summary
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., this disease is estimated to be fewer than

5,000

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.
Categories
Birth Defect
When do symptoms of this disease begin?
This section is currently in development. 

Symptoms

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:

16 Symptoms

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Medical Term

Upper limb phocomelia

Frequency
Uncommon
Very frequent
Always
Description

Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).

Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).

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16 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

This section is currently in development. 

Next: Diagnosis & Treatment

Last Updated: Nov. 8, 2021