microcephalic osteodysplastic primordial dwarfism types I and III

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Disease Overview

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.


Synonyms

  • MOPD 1
  • MOPD types I and III
  • Taybi-Linder syndrome
  • brachymelic primordial dwarfism
  • cephaloskeletal dysplasia
  • low-birth-weight dwarfism with skeletal dysplasia
  • microcephalic osteodysplastic primordial dwarfism type 1
  • microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
  • osteodysplastic primordial dwarfism type I
  • primordial microcephalic dwarfism, Crachami type

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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