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Microcephalic osteodysplastic primordial dwarfism type 1
Other Names for this Disease
- Brachymelic primordial dwarfism
- Cephaloskeletal dysplasia
- Low-birth-weight dwarfism with skeletal dysplasia
- Microcephalic osteodysplastic primordial dwarfism types 1 and 3
- MOPD 1
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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.
- Microcephalic osteodysplastic primordial dwarfism types 1 and 3. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2636. Accessed November 11, 2011.
- Ada Hamosh. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1. OMIM. http://omim.org/entry/210710. Accessed November 11, 2011.
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