Clinical Guidance
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII), the most common of the microcephalic primordial dwarfism syndromes, is characterized by extreme short stature and microcephaly along with distinctive facial features. Associated features that differentiate it from other forms of primordial dwarfism and which may necessitate treatment include: abnormal dentition, a slender bone skeletal dysplasia with hip deformity and/or scoliosis, insulin resistance / diabetes mellitus, chronic kidney disease, cardiac malformations, and global vascular disease. The latter includes neurovascular disease such as moyamoya vasculopathy and intracranial aneurysms (which can lead to strokes), coronary artery disease (which can lead to premature myocardial infarctions), and renal vascular disease. Hypertension, which is also common, can have multiple underlying causes given the complex comorbidities . Anticipated life expectancy is shortened due to the associated comorbidities, which when untreated can lead to early death, predominately in early adulthood (age range 7-41 years) . More than 150 individuals with a molecularly confirmed diagnosis have been identified . The following description of the phenotypic features associated with this condition is based on the most recent review of 47 individuals with molecularly confirmed MOPDII . Table 2. Features of Microcephalic Osteodysplastic Primordial Dwarfism Type II
