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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
On this page
- The 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Microcephalic osteodysplastic primordial dwarfism type 1. Click on the link to view a sample search on this topic.