02/18/2026
✨ Unveiling Our Top 30 Conditions at DDC Clinic! ✨
We are highlighting the 30 most frequent genetic conditions we see here at DDC Clinic. Each post is dedicated to raising awareness, exploring unique facts, and detailing our specialized care. Follow along to learn about these rare genetic conditions!
Condition #22 at DDC Clinic is Microcephalic Osteodysplastic Primordial Dwarfism-1 (MOPD1)!
What is it? MOPD1 is an extremely rare and complex condition caused by a change in the RNU4ATAC gene. This gene encodes a small nuclear RNA involved in a process called “minor splicing,” a vital step in how our cells read genetic instructions.
Key Symptoms: Symptoms often begin during pregnancy, at birth, or in infancy
🔹Growth: severe growth failure before and after birth
🔹Skeletal: abnormal bone growth, short limbs, joint dislocations
🔹Neurological: abnormally small head, brain malformations, developmental delays
🔹Physical features: sparse hair and eyebrows, dry skin, distinct facial features
Inheritance: MOPD1 is an autosomal recessive condition, meaning a child must inherit two abnormal copies of the RNU4ATAC gene (one from each parent) to be affected.
MOPD1 is exceptionally rare, affecting less than 1 in 1,000,000 live births. While fewer than 60 cases have been described in the medical literature, there is a notable cluster in the Amish community.
DDC Clinic is a global leader in treating MOPD1, caring for about 10 patients with this condition (more than any other medical center) and collaborating on 2 research publications.
While there is currently no cure, treatment focuses on managing symptoms and intensive monitoring in the first three years of life. Because it is so severe, most reported patients die in utero or within the first 1-3 years of life due to complications or infections.
At DDC Clinic, we are committed to early diagnosis and management of MOPD1 along with many other rare genetic conditions. We are proud to provide specialized, comprehensive care to our patients and families.
