Microcephalic osteodysplastic primordial dwarfism type 1

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.

Last updated on 05-01-20

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

MOPD1 is thought 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.

Last updated on 05-01-20

What are the chances that future children with be born with microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

When two carriers of an autosomal recessive condition 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.

To learn more about the specific risks to your future offspring, we recommend that you speak with a genetics professional. To find a genetics clinic near you, we recommend contacting your primary doctor for a referral.

To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  • GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.

  • The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.

  • The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.

  • The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.

  • The American Society of Human Genetics (ASHG) is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.

Last updated on 05-01-20

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. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. 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.

Last updated on 05-01-20

How does microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) affect development and learning?

Infants with MOPD1 are often born with severe brain abnormalities, such as lissencephaly and agenesis of the corpus callosum. They have decreased development of both mental and motor skills and seizures are common.

Last updated on 05-01-20

How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) affect pregnancy?

Little data is available regarding how MOPD1 affects pregnancy. Both uncomplicated full-term pregnancies and pre-term pregnancies with complications have been reported in the medical literature. Consistently, however, ultrasound evaluations show that the baby is not growing as quickly as he or she should.

Pregnancies associated with complications and those where the baby has been diagnosed prior to birth with a medical condition, are considered high risk. Women with high risk pregnancies need a special health care team to monitor their pregnancy. Click here to view an information page about choosing a pregnancy health care team.

Last updated on 05-01-20

What is the prognosis for people with microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

Prognosis can vary from patient to patient, however it is generally poor. Some babies are stillborn. Most infants pass away with in a year, often due to infectious diseases.

Last updated on 05-01-20

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.

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: 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

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