Table of ContentsView AllTable of ContentsTypesPhysical TraitsLife ExpectancyDiagnosis
Table of ContentsView All
View All
Table of Contents
Types
Physical Traits
Life Expectancy
Diagnosis
Most infants with primordial dwarfism weigh less than 3 pounds at birth. Many never grow taller than 3 feet. People with primordial dwarfism also tend to share several physical characteristics, including a disproportionately small head (microcephaly), prominent eyes and nose, high-pitched voice, and other physical differences.
This article takes a closer look at primordial dwarfism. It covers the physical features characteristic of primordial dwarfism, general life expectancies, and how this disorder is diagnosed.
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Types of Primordial Dwarfism
At least five genetic disorders currently fall under the umbrella of primordial dwarfism, including:
Since these conditions are rare, it is difficult to know how often they occur. The most common type of primordial dwarfism is MOPD Type II. As few as 100 individuals in North America have been identified as having MOPD Type II. This equates to roughly one in every three million people.
Some families have more than one child with MOPD Type II, which suggests that the disorder is inherited from the genes of both parents rather than just one (a condition known as an autosomal recessive pattern). Both males and females of all ethnic backgrounds can be affected.
What Is the Difference between Dwarfism and Primordial Dwarfism?Primordial dwarfism affects growth in the earliest stages of fetal development. Unlike other forms of dwarfism in which a newborn can be born with a normal length and weight, infants with primordial dwarfism are born much smaller than average due to intrauterine growth retardation.
What Is the Difference between Dwarfism and Primordial Dwarfism?
Primordial dwarfism affects growth in the earliest stages of fetal development. Unlike other forms of dwarfism in which a newborn can be born with a normal length and weight, infants with primordial dwarfism are born much smaller than average due to intrauterine growth retardation.
Physical Features of Primordial Dwarfism
Compared to people with developmentally normal statures, people with primordial dwarfism are extremely small. At birth, people with MOPD Type II typically weigh less than three pounds and are less than 16 inches long. To put this in perspective, that’s about the average size of a 28-week premature newborn.
As the child develops, marked physical changes will start to be seen. In terms of MOPD Type II, typical physical characteristics generally include:
Face, Head, and Skull
People with MOPD Type II tend to have the following face and skull features:
In people with MOPD Type II, adult brain size is about that of a 3-month-old infant. However, this doesn’t usually affect intellectual development.
People with primordial dwarfism may have skin color changes, such as patches of lighter or darker skin. A skin pigment disorder calledacanthosis nigricans, in which skin folds (i.e., in armpits) develop darker, velvety patches, can also occur. In people with PD, acanthosis nigricans is often a sign of insulin resistance and/or diabetes.
Trunk, Chest, and Spine
People with MOPD Type II usually have:
Arms and Legs
People with MOPD Type II generally have:
Life Expectancy with Primordial Dwarfism
Primordial dwarfism is associated with a number of medical problems that reduce life expectancy. Most people with this type of dwarfism do not live past age 30, although there are exceptional cases of people who live well into their 30s.
Associated medical problems that increase the risk of death in people with PD include:
Diagnosing Primordial Dwarfism
Since primordial dwarfism disorders are extremely rare, misdiagnosis is common. Particularly in early childhood, the failure to grow is often attributed to poor nutrition or a metabolic disorder.
A definitive diagnosis is not usually made until the child has the physical characteristics of severe dwarfism. By this point, X-rays will show a thinning of bones along with the widening of the ends of the long bones.
There is currently no effective way to increase the rate of growth in a child with primordial dwarfism. Unlike children withhypopituitary dwarfism, the lack of normal growth is not related to a deficiency of growth hormone. Growth hormone therapy, therefore, will have little to no effect.
Upon diagnosis, medical care will focus on the treatment of problems as they develop, such as infant feeding difficulties, scoliosis, and joint dislocations.
Summary
5 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Nemours Children’s Health.About microcephalic osteodysplastic primordial dwarfism type II.Vakili R, Hashemian S.Primordial dwarfism: A case series from North East of Iran and literature review.JPR. 2019;7(2):113-120. doi:10.32598/jpr.7.2.113Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review.Curr Osteoporos Rep. 2017;15(2):61-69. doi:10.1007/s11914-017-0348-1U.S. National Library of Medicine.MOPDII.Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, Type II: a clinical review.Curr Osteoporos Rep. 2017;15(1):61–69. doi:10.1007/s11914-017-0348-1Additional ReadingAnna Klingseisen and Andrew P. Jackson.Mechanisms and pathways of growth failure in primordial dwarfism. Genes & Development: A Journal of Cellular and Molecular Biology.Nemours Nonprofit Pediatric Health System.Primordial Dwarfism.Shaheen, R.; Fageih, E.; Ansari, S.; et al. “Genomic analysis of primordial dwarfismreveals novel disease genes.“Genom Res.
5 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Nemours Children’s Health.About microcephalic osteodysplastic primordial dwarfism type II.Vakili R, Hashemian S.Primordial dwarfism: A case series from North East of Iran and literature review.JPR. 2019;7(2):113-120. doi:10.32598/jpr.7.2.113Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review.Curr Osteoporos Rep. 2017;15(2):61-69. doi:10.1007/s11914-017-0348-1U.S. National Library of Medicine.MOPDII.Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, Type II: a clinical review.Curr Osteoporos Rep. 2017;15(1):61–69. doi:10.1007/s11914-017-0348-1Additional ReadingAnna Klingseisen and Andrew P. Jackson.Mechanisms and pathways of growth failure in primordial dwarfism. Genes & Development: A Journal of Cellular and Molecular Biology.Nemours Nonprofit Pediatric Health System.Primordial Dwarfism.Shaheen, R.; Fageih, E.; Ansari, S.; et al. “Genomic analysis of primordial dwarfismreveals novel disease genes.“Genom Res.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Nemours Children’s Health.About microcephalic osteodysplastic primordial dwarfism type II.Vakili R, Hashemian S.Primordial dwarfism: A case series from North East of Iran and literature review.JPR. 2019;7(2):113-120. doi:10.32598/jpr.7.2.113Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review.Curr Osteoporos Rep. 2017;15(2):61-69. doi:10.1007/s11914-017-0348-1U.S. National Library of Medicine.MOPDII.Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, Type II: a clinical review.Curr Osteoporos Rep. 2017;15(1):61–69. doi:10.1007/s11914-017-0348-1
Nemours Children’s Health.About microcephalic osteodysplastic primordial dwarfism type II.
Vakili R, Hashemian S.Primordial dwarfism: A case series from North East of Iran and literature review.JPR. 2019;7(2):113-120. doi:10.32598/jpr.7.2.113
Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review.Curr Osteoporos Rep. 2017;15(2):61-69. doi:10.1007/s11914-017-0348-1
U.S. National Library of Medicine.MOPDII.
Bober MB, Jackson AP.Microcephalic osteodysplastic primordial dwarfism, Type II: a clinical review.Curr Osteoporos Rep. 2017;15(1):61–69. doi:10.1007/s11914-017-0348-1
Anna Klingseisen and Andrew P. Jackson.Mechanisms and pathways of growth failure in primordial dwarfism. Genes & Development: A Journal of Cellular and Molecular Biology.Nemours Nonprofit Pediatric Health System.Primordial Dwarfism.Shaheen, R.; Fageih, E.; Ansari, S.; et al. “Genomic analysis of primordial dwarfismreveals novel disease genes.“Genom Res.
Anna Klingseisen and Andrew P. Jackson.Mechanisms and pathways of growth failure in primordial dwarfism. Genes & Development: A Journal of Cellular and Molecular Biology.
Nemours Nonprofit Pediatric Health System.Primordial Dwarfism.
Shaheen, R.; Fageih, E.; Ansari, S.; et al. “Genomic analysis of primordial dwarfismreveals novel disease genes.“Genom Res.
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