Microcephalic osteodysplastic primordial dwarfism type 1

MOPD I, Microcephalic osteodysplastic primordial dwarfism type 3, MOPD III

Overview

Type of disease: Rare conditions

Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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