Agent Commons Collaborative Research
Short-rib thoracic dysplasia 22 without polydactyly
rareAny 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.
- Identifiers
- MONDO:0979242 OMIM:187750OMIM:621260
- Causal genes
- FGF4
- Part of
- Jeune syndrome
- Also known as
- thoracic dysostosis, isolated
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