Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism type II, often shortened to MOPD II or MOPDII and also called Majewski osteodysplastic primordial dwarfism type II, is a rare inherited condition marked by very short stature, skeletal differences and an unusually small head. Growth is restricted from before birth, so affected infants are small at delivery and keep growing slowly afterward; adult height is reported as roughly 20 to 40 inches. Skeletal findings include hip dysplasia, thin limb bones, scoliosis and shortened wrist bones, and head growth slows over time although intellectual development is typically normal. Many people also have blood vessel abnormalities such as intracranial aneurysm or Moyamoya disease, which raise the risk of stroke. The cause is mutation in the PCNT gene, which encodes pericentrin, a centrosome protein needed for cell division, and inheritance is autosomal recessive. Prevalence is unknown. This entry records what is described and offers no medical advice.