Osteodysplastic primordial dwarfism, type 1

Overview

Type of disease: Rare conditions

Osteodysplastic primordial dwarfism type 1 also known as MOPD type 1, is a congenital (present at birth) disease characterized by slow growth both during pregnancy and after birth. Symptoms of MOPD type 1 include small head size (microcephaly), abnormal bone growth (skeletal dysplasia), distinctive fascial features, and brain abnormalities. Other signs may include having little hair and eyebrows, dry skin, short limbs, dislocation of hips and elbows, seizures, and intellectual disability. Distinct facial features may include a flat nose, bulging eyes, or a small jaw. Most individuals with MOPD type 1 do not survive past the first year of life.

MOPD type 1 is a genetic condition caused by mutations (changes) in the RNU4ATAC gene. We inherit our genes in pairs, one from each parent typically. This condition is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.

MOPD type 1 can first be seen during pregnancy with an ultrasound or noticed at birth. Treatment is mostly supportive, as the prognosis is poor for most affected individuals. If you or a family member has been diagnosed with MOPD type 1, talk to your doctor about the most current treatment options. Support groups are also a good source of information.

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