D2I2.
genetic

Jeune syndrome

Asphyxiating thoracic (ATD), also known as Jeune , is a rare inherited bone growth disorder that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short , and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States.

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Symptoms — what it feels like

  • ·Narrow chest, short ribs, shortened bones of the arms and legs, unusually shaped , and extra fingers and/or toes

Treatment

  • ·Mechanical , endotracheal suctioning, postural drainage, Vertical expandable prosthetic titanium rib (VEPTR), thoracic expansion, or other chest reconstruction surgeries.
Plain-language summary adapted from Wikipedia. Not medical advice.