Pelvis-shoulder dysplasia
ORPHA:2839· ICD-10 Q87.5
Definition
A rare dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Additional skeletal abnormalities may include hypoplasia of the clavicles, phalanges, ribs, femora and fibula, spina bifida, prominent lumbar lordosis, camptodactyly and clubbed feet. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Patients do not exhibit craniocervical abnormalities.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal