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What is the proboscis birth defect?

Published in Birth Defects 2 mins read

Proboscis lateralis (PL) is a rare congenital facial malformation where the external nose on one side fails to develop properly and is replaced by a tubular structure made of skin and soft tissue. This structure is often attached near the inner corner (canthus) of the eye and is commonly associated with other nasal development issues on the affected side.

Key Characteristics of Proboscis Lateralis:

  • Abnormal Nasal Development: The primary feature is the absence or severe malformation of the nose on one side of the face.
  • Tubular Structure (Proboscis): A tube-like appendage, composed of skin and soft tissue, replaces the normal nasal structure.
  • Location: This tubular structure usually originates near the inner corner of the eye on the affected side.
  • Associated Anomalies: Proboscis lateralis is often linked to other developmental abnormalities, including:
    • Nasal Septum Deviation: Displacement of the wall between the nostrils.
    • Choanal Atresia: Blockage of the nasal passage at the back of the nose.
    • Lacrimal Duct Abnormalities: Issues with the tear drainage system.
    • Other Facial Clefts: Additional malformations of the face.

Causes:

The exact cause of proboscis lateralis is not fully understood. However, it is believed to arise from disruptions during early facial development in the womb. Genetic factors and environmental influences could play a role.

Diagnosis:

Proboscis lateralis is typically diagnosed at birth or during prenatal ultrasound examinations.

Treatment:

Treatment typically involves surgical reconstruction to improve facial appearance and function, including creating a more normal-looking nose and addressing any associated problems like blocked nasal passages or tear duct issues. Multiple surgeries may be needed over time.

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