Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007).Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2; 164745), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).
Resource(s) for Medical Professionals and Scientists on This Disease:
RareSourceoffers rare disease gene variant annotations and links to rare disease gene literature.
About Autosomal recessive omodysplasia
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
Symptoms:May start to appear as a Newborn and as an Infant.
Cause:This disease is caused by a change in the genetic material (DNA).
Organizations:GARD is not currently aware of organizations specific to this disease.
Categories:Birth DefectGenetic Disease
When Do Symptoms of Autosomal recessive omodysplasia Begin?
Symptoms of this disease may start to appear as a Newborn and as an Infant.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
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
Symptoms may start to appear as a Newborn and as an Infant.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others, and you should consult your primary care provider (PCP) for more information.
This list does not include all possible symptoms related to this disease, but they may include:
23 Symptoms
Tile View
List View
Tile View
List View
Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Abnormality of the metaphysis
Frequency
Uncommon
Very frequent
Very frequent
Always
Description
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Synonym
Abnormality of the wide portion of a long bone
Abnormality of the wide portion of a long bone
23 Symptoms
Causes
Genetic Disease
Autosomal recessive omodysplasia is a genetic disease, which means that it is caused by one or more genes not working correctly.
Disease-causing variants, or differences, in the following gene(s) are known to cause this disease: GPC6
What Is a Gene?
Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease.
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.
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
Read More
Read Less
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time (Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
1-888-205-2311 
