Microcephalic osteodysplastic primordial dwarfism type 2

How do the different types of microcephalic osteodysplastic primordial dwarfism (MOPD) differ in terms of genetics?

All types of microcephalic osteodysplastic primordial dwarfism (MOPD) appear to be inherited in an autosomal recessive manner. 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.

MOPD types 1 and 3 were previously thought to be separate entities, but more recent evidence has supported the notion that they are in fact the same. Hence, the more recent literature often lumps these two together, often referring to them now as MOPD 1. This type of has been shown to be caused by mutations in the RNU4ATAC gene, while MOPD 2 has been shown to be caused by mutations in the PCNT gene.

Last updated on 05-01-20

What does the "M" in MOPD stand for?

The "M" in the acronym MOPD most commonly stands for "microcephalic." This is a descriptive term for when an individual has an abnormally small head size (microcephaly), which is one of the main characteristics of MOPD. Some sources call MOPD type 2 "Majewski osteodysplastic primordial dwarfism type 2" so these may be synonynous. Majewski was one of the authors of several publications who originally defined three types of osteodysplastic primordial dwarfism (and distinguished them from another disorder called Seckel syndrome) in the 1980s. However, there has since been consensus that MOPD types 1 and 3, described by Majewski and others, are actually variations of the same condition.

Last updated on 05-01-20

Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home
Name: Little People of America, Inc. 617 Broadway #518
Sonoma, CA, 95476, United States
Phone: +1-714-368-3689 Toll Free: 1-888-572-2001 Fax : +1-707-721-1896 Email: info@lpaonline.org Url: https://www.lpaonline.org/
Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States
Phone: 410-614-0977 Email: deedee@jhmi.edu Url: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/
Name: Potentials Foundation PO Box 34
Sandoval, IL, 62882,
Email: potentialsfoundation@gmail.com Url: http://www.potentialsfoundation.org/
Name: Walking With Giants Foundation WWGF PO BOX 85 Maghull
Liverpool L31 6WW
England
Phone: 0151 526 0134 Url: http://walkingwithgiants.org
Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home

Connect with other users with Microcephalic osteodysplastic primordial dwarfism type 2 on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App