- Home
- Browse by Disease
- Morse-Rawnsley-Sargent Syndrome
Morse-Rawnsley-Sargent syndrome
- Other Names:
Holoprosencephaly with fetal akinesia/hypokinesia sequenceHoloprosencephaly with fetal akinesia/hypokinesia sequence
Read More
Read Less
Disease at a Glance
Summary
Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.
Estimated Number of People with this Disease
In the U.S. there may be between
1 to 300
What Information Does GARD Have For This Disease?
Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:
*Data may be currently unavailable to GARD at this time.
Categories
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal Selected
Before Birth
Newborn
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).
Symptoms
These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
This disease might cause these symptoms:
Skin System
24 Symptoms
Tile View
List View
Skin System
The skin or integumentary system is made up of skin, hair, nails, sweat glands, and oil glands. Common symptoms of problems in the skin system include redness, swelling, burning, itching, rashes, and hives. Skin diseases are often diagnosed and treated by dermatologists. Other specialists may also be involved including rheumatologists, allergists, and infectious disease doctors.
24 Symptoms
Causes
Genetic Disease
Morse-Rawnsley-Sargent syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly.
The following gene(s) are known to be associated with this disease: GPKOW
Questions:
What is a gene?
Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.
Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.
Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.
Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.
Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)
Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.
Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.
Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.
Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)
What is a genetic variant?
A genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. A benign variant does not cause health problems or disease because the change does not affect how the gene works. A pathogenic variant does cause health problems or disease because the change does affect how the gene works. A pathogenic variant may also be called a mutation or a disease-causing variant.
Variants can result from DNA copying mistakes made during cell division or certain environmental exposures. Variants that occur in the egg or sperm (germline mutations) can be passed on to offspring, while variants that occur in other body cells (somatic mutations) are not passed on.
Sources to Learn More: What is a genetic variant and how do variants occur? (MedlinePlus); Definition of Variant (NCI); Mutation definition, illustration, and related terms (NHGRI)A genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. A benign variant does not cause health problems or disease because the change does not affect how the gene works. A pathogenic variant does cause health problems or disease because the change does affect how the gene works. A pathogenic variant may also be called a mutation or a disease-causing variant.
Variants can result from DNA copying mistakes made during cell division or certain environmental exposures. Variants that occur in the egg or sperm (germline mutations) can be passed on to offspring, while variants that occur in other body cells (somatic mutations) are not passed on.
Sources to Learn More: What is a genetic variant and how do variants occur? (MedlinePlus); Definition of Variant (NCI); Mutation definition, illustration, and related terms (NHGRI)
Variants can result from DNA copying mistakes made during cell division or certain environmental exposures. Variants that occur in the egg or sperm (germline mutations) can be passed on to offspring, while variants that occur in other body cells (somatic mutations) are not passed on.
Sources to Learn More: What is a genetic variant and how do variants occur? (MedlinePlus); Definition of Variant (NCI); Mutation definition, illustration, and related terms (NHGRI)A genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. A benign variant does not cause health problems or disease because the change does not affect how the gene works. A pathogenic variant does cause health problems or disease because the change does affect how the gene works. A pathogenic variant may also be called a mutation or a disease-causing variant.
Variants can result from DNA copying mistakes made during cell division or certain environmental exposures. Variants that occur in the egg or sperm (germline mutations) can be passed on to offspring, while variants that occur in other body cells (somatic mutations) are not passed on.
Sources to Learn More: What is a genetic variant and how do variants occur? (MedlinePlus); Definition of Variant (NCI); Mutation definition, illustration, and related terms (NHGRI)
What is a genetic disease?
A genetic disease is a disease caused by a change in part of a person's DNA. Genetic diseases may be caused by genetic changes in a single gene, in multiple genes, by a combination of genetic changes and environmental factors (multifactorial inheritance), or changes in chromosomes.
Genetic diseases may be caused by genetic changes that are inherited from the parents and are present at birth, like sickle cell disease. Other genetic diseases present at birth may be caused by random genetic changes that happen while the egg or the sperm is forming or soon after fertilization.
Some diseases, like many cancers, are caused by genetic changes that happen during a person's life. These are known as acquired or somatic cell genetic changes. Such genetic changes are not inherited from a parent, but happen either randomly or due to some environmental exposure (such as cigarette smoke).
Sources to Learn More: Genetic Disorders (MedlinePlus) ; Genetic Disorders (NHGRI)A genetic disease is a disease caused by a change in part of a person's DNA. Genetic diseases may be caused by genetic changes in a single gene, in multiple genes, by a combination of genetic changes and environmental factors (multifactorial inheritance), or changes in chromosomes.
Genetic diseases may be caused by genetic changes that are inherited from the parents and are present at birth, like sickle cell disease. Other genetic diseases present at birth may be caused by random genetic changes that happen while the egg or the sperm is forming or soon after fertilization.
Some diseases, like many cancers, are caused by genetic changes that happen during a person's life. These are known as acquired or somatic cell genetic changes. Such genetic changes are not inherited from a parent, but happen either randomly or due to some environmental exposure (such as cigarette smoke).
Sources to Learn More: Genetic Disorders (MedlinePlus) ; Genetic Disorders (NHGRI)
Genetic diseases may be caused by genetic changes that are inherited from the parents and are present at birth, like sickle cell disease. Other genetic diseases present at birth may be caused by random genetic changes that happen while the egg or the sperm is forming or soon after fertilization.
Some diseases, like many cancers, are caused by genetic changes that happen during a person's life. These are known as acquired or somatic cell genetic changes. Such genetic changes are not inherited from a parent, but happen either randomly or due to some environmental exposure (such as cigarette smoke).
Sources to Learn More: Genetic Disorders (MedlinePlus) ; Genetic Disorders (NHGRI)A genetic disease is a disease caused by a change in part of a person's DNA. Genetic diseases may be caused by genetic changes in a single gene, in multiple genes, by a combination of genetic changes and environmental factors (multifactorial inheritance), or changes in chromosomes.
Genetic diseases may be caused by genetic changes that are inherited from the parents and are present at birth, like sickle cell disease. Other genetic diseases present at birth may be caused by random genetic changes that happen while the egg or the sperm is forming or soon after fertilization.
Some diseases, like many cancers, are caused by genetic changes that happen during a person's life. These are known as acquired or somatic cell genetic changes. Such genetic changes are not inherited from a parent, but happen either randomly or due to some environmental exposure (such as cigarette smoke).
Sources to Learn More: Genetic Disorders (MedlinePlus) ; Genetic Disorders (NHGRI)
Next Steps
Talking with the Medical Team
Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.
The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.
U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.
- Reference: Access aggregated data from Orphanet at Orphadata. Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.
- Reference: Download data from HPO. Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.
- Reference: MedGen Data Downloads and FTP
- Reference: Data from the Newborn Screening Coding and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange . J Am Med Inform Assoc. 2010 Jan-Feb;17(1):13-8.
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.
U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.
Last Updated: Nov. 8, 2021