Oligodactyly

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Oligodactyly[edit | edit source]

A child's feet showing oligodactyly, with missing toes.

Oligodactyly is a congenital condition characterized by the presence of fewer than five fingers or toes on a hand or foot. It is a type of limb anomaly that can occur in isolation or as part of a syndrome. Oligodactyly can affect one or more limbs and varies in severity from mild to severe.

Etiology[edit | edit source]

Oligodactyly can result from genetic mutations, environmental factors, or a combination of both. It may occur as an isolated defect or as part of a genetic syndrome such as Poland syndrome or Apert syndrome. Genetic mutations affecting limb development pathways, such as those involving the SHH (Sonic Hedgehog) gene, can lead to oligodactyly.

Clinical Presentation[edit | edit source]

Patients with oligodactyly present with fewer than the normal number of digits on one or more limbs. The condition can be unilateral or bilateral and may involve the hands, feet, or both. The missing digits can be completely absent or represented by rudimentary structures.

Diagnosis[edit | edit source]

Close-up of oligodactyly in a young child.

Diagnosis of oligodactyly is primarily clinical, based on physical examination. Prenatal diagnosis is possible through ultrasound imaging, which can detect limb anomalies in the fetus. Genetic testing may be conducted to identify any associated syndromes or genetic mutations.

Management[edit | edit source]

Management of oligodactyly depends on the severity of the condition and the presence of any associated syndromes. Treatment options may include:

  • Surgical intervention: To improve function and appearance, especially if the condition affects the hands.
  • Prosthetics: To aid in function, particularly for missing fingers or toes.
  • Physical therapy: To enhance mobility and dexterity.

Prognosis[edit | edit source]

The prognosis for individuals with oligodactyly varies depending on the severity of the condition and any associated anomalies. Isolated oligodactyly generally has a good prognosis, with most individuals leading normal lives. However, when part of a syndrome, the overall prognosis depends on the associated conditions.

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Contributors: Prab R. Tumpati, MD