Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.
Estimated Number of People with this Disease
In the U.S., this disease is estimated to be less than
1,000
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.
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
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
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:
48 Symptoms
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Medical Term
Abnormal digit morphology
Frequency: Very frequent (80-99%)
Description
A morphological abnormality of a digit, i.e., of a finger or toe.
A morphological abnormality of a digit, i.e., of a finger or toe.
Synonym
Digital anomalies
Digital anomalies
48 Symptoms
Causes
Genetic Disease
Temtamy preaxial brachydactyly syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly.
Disease causing variants in the following gene(s) are known to cause this disease: CHSY1
Questions:
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.
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.
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.
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).
All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):
Questions:
Autosomal recessive inheritance
Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.
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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.
Describing Symptoms
Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.
To help describe a symptom:
Use a smartphone or a notebook to record each symptom before the appointment
Describe each symptom by answering the following questions:
When did the symptom start?
How often does it happen?
Does anything make it better or worse?
Tell the medical team whether any symptoms affect daily activities
Preparing for the First Visit
Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.
Make informed decisions about health care:
Prepare a list of questions and concerns before the appointment
List the most important questions first, not all questions may be answered in the first visit
Ask questions about symptoms, possible diagnoses, tests, and treatment options
For future appointments:
Discuss what was not addressed at the last visit
Discuss changes in the quality of life for the patient, family, and caregivers
Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
Take notes during the appointments to help remember what was discussed.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
