Phocomelia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Phocomelia
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Limb reduction
Complications	Mobility impairment, functional limitations
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation, thalidomide exposure during pregnancy
Risks	Teratogenic drugs, genetic predisposition
Diagnosis	Prenatal ultrasound, physical examination
Differential diagnosis	Amelia (birth defect), Sirenomelia
Prevention	Avoidance of teratogenic drugs during pregnancy
Treatment	Prosthetics, physical therapy, occupational therapy
Medication	N/A
Prognosis	Varies depending on severity and treatment
Frequency	Rare
Deaths	N/A

Ears of phocomelia patients

Phocomelia

Phocomelia

Phocomelia is a rare congenital disorder that involves malformations of the arms and legs. Although the exact cause of phocomelia is unknown, it is believed to be associated with genetic and environmental factors. The condition was notably linked to the use of the drug thalidomide, which was prescribed to pregnant women in the late 1950s and early 1960s to alleviate morning sickness.

Causes

Phocomelia is typically caused by genetic mutations or environmental factors. The most well-known environmental cause is exposure to the drug thalidomide during pregnancy. Thalidomide was widely prescribed in the late 1950s and early 1960s to alleviate morning sickness, but was later found to cause severe birth defects, including phocomelia. Other potential causes include exposure to radiation, infection during pregnancy, or use of other drugs or chemicals.

Symptoms

The primary symptom of phocomelia is the presence of shortened or absent limbs. The severity of the condition can vary widely, with some individuals having only minor deformities and others having significant physical disabilities. Other symptoms can include facial abnormalities, heart defects, and intellectual disabilities.

Diagnosis

Phocomelia is usually diagnosed at birth based on the physical appearance of the baby. In some cases, the condition can be detected before birth through ultrasound imaging. Genetic testing may also be used to confirm the diagnosis and identify any underlying genetic mutations.

Treatment

There is no cure for phocomelia, but treatment can help manage the symptoms and improve quality of life. Treatment options include physical therapy, occupational therapy, and surgery to correct deformities or improve function. In some cases, prosthetic limbs may be used.

See also

• Thalidomide
• Congenital disorder
• Genetic mutation

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