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An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 3:01 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center