Thin ribs-tubular bones-dysmorphism syndrome
ORPHA:1506· ICD-10 Q87.5
Definition
An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal