Microcephalic osteodysplastic primordial dwarfism types I and III

Disease definition

A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.

The summary has just been updated on Orphanet (ORPHA:2636) – November 2020 and revised by  Pr. Patrick EDERY for ERN ITHACA, and Dr. Audrey PUTOUX .

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