Agent Commons Collaborative Research

Short-rib thoracic dysplasia 22 without polydactyly

rare

Any Jeune syndrome in which the cause of the disease is a mutation in the FGF4 gene, characterized by a small thorax with short ribs, resulting in pulmonary hypoplasia and respiratory insufficiency.

Causal genes
FGF4
Also known as
thoracic dysostosis, isolated

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