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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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
More Names
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Symptoms


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What are the signs and symptoms of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia).[1][2] In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures.[1] Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability.[2] Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum).[2]
Last updated: 11/11/2011

References
  1. Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An atlas of genetic disorders of the skeletal development. 2nd ed. Oxford, NY: Oxford University Press; 2002;
  2. 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.