Rare Hematology News
Disease Profile
Loeys-Dietz syndrome type 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Loeys-Dietz syndrome 2
Categories
Blood Diseases; Congenital and Genetic Diseases; Heart Diseases;
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
| Arnold-Chiari malformation | 0002308 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Bicuspid pulmonary valve | 0005182 | |
| 0001363 | ||
| Descending thoracic aorta aneurysm | 0004959 | |
| Dilatation of the cerebral artery | 0004944 | |
| Disproportionate tall stature | 0001519 | |
| Global |
0001263 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Inguinal hernia | 0000023 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Mitral valve prolapse | 0001634 | |
| 0000939 | ||
|
More than five fingers or toes on hands or feet
|
0010442 | |
| Postaxial polydactyly | 0100259 | |
|
Webbed fingers or toes
|
0001159 | |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
| Ascending aortic dissection | 0004933 | |
| Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
| 0000006 | ||
| Bifid uvula | 0000193 | |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Dermal translucency | 0010648 | |
| Eosinophilic infiltration of the esophagus | 0410151 | |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Generalized arterial tortuosity |
Generalized twisted arteries
|
0004955 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Joint |
0009473 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Patent ductus arteriosus | 0001643 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
| Protrusio acetabuli | 0003179 | |
| Pulmonary artery aneurysm | 0004937 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
| 0002650 | ||
| Spondylolisthesis |
Displacement of one backbone compared to another
Slipped backbone
[ more ] |
0003302 |
| Spontaneous pneumothorax |
Spontaneous collapsed lung
|
0002108 |
| Striae distensae |
Stretch marks
|
0001065 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Loeys-Dietz Syndrome Foundation (US)
PO Box 22468
Baltimore, MD 21203
E-mail: [email protected]
Website: https://www.loeysdietz.org/ -
Loeys-Dietz Syndrome Foundation Canada
4 King, Suite 300
Pointe-Claire, Quebec, Canada
Toll-free: 1-844-505-4800
Telephone: 1-514-505-4800
E-mail: [email protected]
Website: https://loeysdietzcanada.org -
The Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
Toll-free: 1-800-8-MARFAN (800-862-7326)
Telephone: +1-516-883-8712
Fax: +1-516-883-8040
E-mail: https://www.marfan.org/secure/ask
Website: https://www.marfan.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Johns Hopkins has information on Loeys-Dietz syndrome on their Web site. You can click on the link to view this information page.
- The National Marfan Foundation has information on Loeys-Dietz syndrome on their Web site. You can click on the link to view this information page.
- Loeys-Dietz Syndrome Foundation is a non-profit advocacy organization for this condition, and they provide medical information on their website.
- Genetics Home Reference (GHR) contains information on Loeys-Dietz syndrome type 2. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Loeys-Dietz syndrome type 2. Click on the link to view a sample search on this topic.