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A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.
Features include: Short stature, Short ribs, Neonatal respiratory distress, and Irregular vertebral endplates and 10 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 3 | Irregular vertebral endplates, Sideways curvature of the spine (scoliosis), Narrow pelvis bone |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:03 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Short stature |
Lungs and breathing | 1 | Neonatal respiratory distress |
Pregnancy and birth | 1 | Neonatal respiratory distress |