Microcephalic osteodysplastic primordial dwarfism type 1
Other Names for this Disease
- MOPD 1
- Microcephalic osteodysplastic primordial dwarfism types 1 and 3
- Osteodysplastic primordial dwarfism type I
- Brachymelic primordial dwarfism
- Taybi-Linder syndrome
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 type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (
Last updated: 11/11/2011
- Microcephalic osteodysplastic primordial dwarfism types 1 and 3. Orphanet. November 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2636. Accessed 11/11/2011.
- Ada Hamosh. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1. OMIM. April 22, 2011; http://omim.org/entry/210710. Accessed 11/11/2011.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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