Phocomelia syndrome

Phocomelia syndrome is a rare congenital disorder that affects the development of the limbs during embryogenesis. The term "phocomelia" is derived from the Greek words "phoke" meaning "seal" and "melia" meaning "limb", referring to the characteristic limb malformations that resemble the flippers of a seal.

Etiology

The exact cause of Phocomelia syndrome is not fully understood. However, it is known to be associated with genetic mutations and environmental factors. The most infamous case of phocomelia was caused by the drug Thalidomide, which was prescribed to pregnant women in the 1950s and 1960s to alleviate morning sickness. The drug interfered with the normal development of the limbs, leading to severe malformations.

Clinical Features

Individuals with phocomelia syndrome present with a range of limb abnormalities. The most common feature is the absence or severe shortening of the proximal bones (the bones closest to the body), with the hands or feet attached directly to the trunk. Other features may include micrognathia (small jaw), microphthalmia (small eyes), and microtia (small ears).

Diagnosis

Diagnosis of phocomelia syndrome is typically made based on physical examination and imaging studies such as X-ray and ultrasound. Genetic testing may also be performed to identify any underlying genetic mutations.

Treatment

Treatment for phocomelia syndrome is primarily supportive and focuses on improving the individual's quality of life. This may include physical and occupational therapy, prosthetic devices, and in some cases, surgical intervention.

Prognosis

The prognosis for individuals with phocomelia syndrome varies widely depending on the severity of the limb abnormalities and the presence of associated conditions. With appropriate treatment and support, many individuals with phocomelia syndrome can lead fulfilling lives.

See Also

• Thalidomide
• Congenital disorders
• Genetic disorders

NIH genetic and rare disease info

• NIH info on Phocomelia syndrome

Phocomelia syndrome is a rare disease.

Phocomelia syndrome Resources
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