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Disease Profile
Loeys-Dietz syndrome
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.
Unknown
Age of onset
Infancy
ICD-10
Q87.4
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 aortic aneurysm syndrome; Aortic aneurysm syndrome, Loeys-Dietz type
Categories
Blood Diseases; Congenital and Genetic Diseases; Lung Diseases;
Summary
Loeys-Dietz
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Aortic dissection |
Tear in inner wall of large artery that carries blood away from heart
|
0002647 |
Arterial dissection | 0005294 | |
Arterial tortuosity | 0005116 | |
Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Patent ductus arteriosus | 0001643 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Uterine rupture | 0100718 | |
30%-79% of people have these symptoms | ||
Abnormal sternum morphology |
Abnormality of the sternum
Sternal anomalies
[ more ] |
0000766 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
Ascending aortic dissection | 0004933 | |
Atypical scarring of skin |
Atypical scarring
|
0000987 |
Bifid uvula | 0000193 | |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
0001363 | ||
Generalized arterial tortuosity |
Generalized twisted arteries
|
0004955 |
Joint |
0009473 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
0002650 | ||
Soft skin | 0000977 | |
Striae distensae |
Stretch marks
|
0001065 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tall stature |
Increased body height
|
0000098 |
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 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Cardiac arrest |
Heart stops beating
|
0001695 |
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 | |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Mitral valve prolapse | 0001634 | |
0000939 | ||
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
More than five fingers or toes on hands or feet
|
0010442 | |
Postaxial polydactyly | 0100259 | |
Webbed fingers or toes
|
0001159 | |
Thin skin | 0000963 | |
Umbilical hernia | 0001537 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
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 |
Little lower jaw
Small jaw
Small lower jaw
[ more
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. 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. 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. Rare Neurology News |