short-rib thoracic dysplasia 9 with or without polydactyly
MeSH: C535463ORPHA: 140969
Overview
asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C535463Orphanet Code
ORPHA:140969short-rib thoracic dysplasia 9 with or without polydactyly
| MeSH | C535463 |
| Orphanet | ORPHA:140969 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO