How many limbs can be affected by phocomelia?
Phocomelia can vary in type and severity. The condition might affect one limb, the upper or lower limbs, or all four limbs. It most commonly affects the upper limbs. The limbs can also be reduced or missing completely. Sometimes, the fingers may be missing or fused together.
What do you need to know about phocomelia?
Sporadic Phocomelia: This is a rare genetic disorder where phocomelia is inherited as a recessive trait. This condition may also result from a spontaneous mutation. Roberts Syndrome: This is a rare disorder identifiable by malformations of the bone. In severe cases, the hands and feet may grow too close to the body, resulting in phocomelia.
Who is the best pediatrician for phocomelia?
Lyndsey Garbi, MD, is a pediatrician who is double board-certified in pediatrics and neonatology. Phocomelia is a birth defect characterized by short upper and/or lower limbs. Where all four limbs are affected, it is known as tetra-phocomelia.
How does thalidomide affect the person with phocomelia?
Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide and from genetic inheritance. Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities,…
What kind of therapy do you need for phocomelia?
With occupational therapy, a person with phocomelia can learn how to do daily tasks with ease. Physical therapy. This type of therapy can improve movement, strength, and posture. Speech therapy. Speech therapy can help manage speech problems. Phocomelia treatment rarely involves surgery.
How is phocomelia inherited from family to family?
Inherited as part of a genetic syndrome Phocomelia can be genetically passed down within families. It’s associated with an abnormality in chromosome 8. Phocomelia is an autosomal recessive trait.
What are the causes of phocomelia in women?
Phocomelia causes 1 Inherited as part of a genetic syndrome.Phocomelia can be genetically passed down within families. 2 Thalidomide-induced phocomelia.Another cause of phocomelia is maternal intake of thalidomide during the first trimester of pregnancy. 3 Other causes.The primary symptom of phocomelia is shortened or missing limbs.
