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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

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

What causes microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited?

How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated?

What is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

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.[1] It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner.[2] Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life.[1] 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.[1]
Last updated: 11/11/2011

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).[3][1] In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures.[3] Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability.[1] 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).[1]
Last updated: 11/11/2011

What causes microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) has been shown to be caused by mutations in the RNU4ATAC gene.[2]
Last updated: 11/11/2011

How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited?

MOPD1 is thought to be inherited in an autosomal recessive manner.[3] This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The parents who each carry one abnormal copy of the gene are referred to as carriers; carriers typically do not show signs or symptoms of an autosomal recessive condition. When two carriers have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 11/11/2011

How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated?

At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life.[1]
Last updated: 11/11/2011

References
  1. 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.
  2. Ada Hamosh. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1. OMIM. April 22, 2011; http://omim.org/entry/210710. Accessed 11/11/2011.
  3. 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;


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.