Short-rib thoracic dysplasia 22 without polydactyly

Definition

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.

Also known as thoracic dysostosis, isolated — per MONDO

Also identified as

• MESH C566063 per MONDO
• OMIM 187750 per MONDO
• OMIM 621260 per MONDO