Phocomelia: What do you need to know or not?

Let us tell you that phocomelia, or amelia, is a rare condition that causes very small limbs. It is a type of congenital disorder. Let me tell you this means that it is present at birth.

Let us tell you that phocomelia can vary in type and severity. The condition can affect one limb, the upper or lower limbs, or all four limbs. Usually affects the upper limbs.

Let us tell you that, organs can also be reduced or completely disappeared. Sometimes, fingers may be missing or intertwined.

Let us tell you that, if all four organs are absent, it is called tetra phocomelia. Let us tell you that “Tetra” means four, “Phoco” means seal, and “Melos” means organ. Let us tell you that, this word refers to the way the hands and feet look. The hands may be attached to the shoulders, while the legs may be attached to the pelvis.

Let us tell you that phocomelia is often related to issues during early pregnancy. Specifically, within the first 24 to 36 days of life, the embryo begins to develop organs. Let us tell you that, if this process is disrupted, cells cannot divide and develop normally. This inhibits the proper development of organs, resulting in phocomelia.

In this article, we will explore the possible causes of malformations of the limbs, along with possible treatment options.

phocomelia causes

As you know, the underlying causes of phocomelia are somewhat unclear. Several factors are likely to be involved in this.

It is inherited as part of a genetic syndrome

As you may know, phocomelia can be passed down genetically within families. It is associated with an abnormality in chromosome 8. Pheocomelia is an autosomal recessive trait. This means that both parents need the abnormal gene for a child.

Often in some cases, a spontaneous genetic defect can cause phocomelia. This means that the mutation is new and is not related to an inherited abnormality.

Thalidomide-induced phocomelia

Let us tell you, another cause of phocomelia is maternal intake of thalidomide during the first trimester of pregnancy.

Let us tell you that, Thalidomide is a sedative which was released in 1957. For about 5 years, the drug was used for a variety of conditions, including morning sickness and nausea in pregnancy. It was considered very safe and was not associated with any side effects.

Use of thalidomide during early pregnancy has been found to cause birth defects. A variety of abnormalities were reported, but the most common was phocomelia.

Because of these side effects, thalidomide was withdrawn as a pregnancy drug in 1961. But babies with thalidomide-related conditions were born as far back as 1962. It is the cause of birth defects in more than 10,000 babies worldwide.

Today, the drug is used for conditions such as Crohn’s disease, multiple myeloma, and leprosy. If you get a prescription for thalidomide, it is important to make sure you are not pregnant.

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phocomelia treatment

It should be noted that there is currently no cure for phocomelia. However, the following forms of treatment can help manage symptoms:

prosthesis
Let us tell you that prosthetics are prostheses that are attached to the body. They can add length to an existing limb or replace an absent one. This makes it easier to perform everyday activities, which can improve overall quality of life.

Treatment
Remember, treatment may also include various forms of rehabilitation, such as:

  • physical therapy. This type of therapy can improve movement, strength, and posture.
  • occupational therapy. With occupational therapy, a person with phocomelia can learn to perform daily tasks more easily.
  • speech therapy. Speech therapy can help manage speech problems.

Surgery
Pheocomelia treatment rarely involves surgery. Generally, this is only done if phocomelia is caused by a genetic mutation.

Let me tell you, a specific process is not used. If surgery is recommended, it may include:

correcting structural issues in the face

  • stabilizing joints
  • Improved thumb resistance (the ability to rotate the thumb)
  • lengthening existing bones

The best choice depends on the organs affected by phocomelia.

Phocomelia and other symptoms of thalidomide syndrome

The primary symptom of phocomelia is shortened or missing limbs. There can also be problems with:

Eyes
Ear
Nose
development
Feeling
If thalidomide is the cause of phocomelia, it will likely be accompanied by more serious issues. This is because thalidomide can affect almost every tissue and organ.

Together, these issues are known as thalidomide syndrome or thalidomide embryopathy. In addition to phocomelia, these may include:

Syndactyly (webbed fingers or toes)
polydactyly (extra fingers or toes)
heart problems
kidney and urinary tract issues
bowel abnormalities
external and internal genital issues
blindness
Deafness
nervous system disorder
underdeveloped shoulder and hip joints
In particular, undersized shoulder and hip joints are unique to thalidomide syndrome. The deformity of the limbs in thalidomide embryopathy is also usually symmetric.

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Bottom-line

Let us tell you that phocomelia is an extremely rare condition. It is characterized by one or more small organs.

In more severe cases, the limbs may be completely absent. Other possible symptoms include problems with the eyes, growth and cognition.

Both hereditary and spontaneous genetic mutations can cause phocomelia. Certain substances used during the earlier stages of pregnancy can also cause it, such as thalidomide or cocaine.

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