Rare Medical News
Disease Profile
Loeys-Dietz syndrome type 3
Prevalence
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.
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.
<1 / 1 000 000
Age of onset
All ages
ICD-10
-
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)
LDS3; Aneurysms-osteoarthritis syndrome; Loeys-Dietz syndrome with osteoarthritis;
Categories
Blood Diseases; Congenital and Genetic Diseases; Lung Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 284984
Definition
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.
Visit the Orphanet disease page for more resources.
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 | ||
| Dilatation of the sinus of Valsalva | 0011645 | |
| Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
| 30%-79% of people have these symptoms | ||
| Abnormality of bladder morphology | 0025487 | |
| Aortic dissection |
Tear in inner wall of large artery that carries blood away from heart
|
0002647 |
| Aortic regurgitation | 0001659 | |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
| Arterial dissection | 0005294 | |
| Arterial tortuosity | 0005116 | |
| Atypical scarring of skin |
Atypical scarring
|
0000987 |
| Bifid uvula | 0000193 | |
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
| Chronic fatigue |
Chronic extreme exhaustion
|
0012432 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
| Dilatation of the cerebral artery | 0004944 | |
| High forehead | 0000348 | |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hypertelorism |
Widely spaced eyes
Wide-set eyes
[ more ] |
0000316 |
| Inguinal hernia | 0000023 | |
| Knee osteoarthritis | 0005086 | |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
| Mitral regurgitation | 0001653 | |
| Osteoarthritis of the small joints of the hand | 0004268 | |
| Protrusio acetabuli | 0003179 | |
| 0002650 | ||
| Striae distensae |
Stretch marks
|
0001065 |
| Umbilical hernia | 0001537 | |
| Uterine prolapse |
Sagging uterus
|
0000139 |
| 5%-29% of people have these symptoms | ||
| Abdominal aortic aneurysm | 0005112 | |
| Atrial fibrillation |
Quivering upper heart chambers resulting in irregular heartbeat
|
0005110 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
|
Cleft roof of mouth
|
0000175 | |
| Disproportionate tall stature | 0001519 | |
| Dural ectasia | 0100775 | |
| Intervertebral disc degeneration | 0008419 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
| Left ventricular hypertrophy | 0001712 | |
| Osteochondritis Dissecans | 0010886 | |
| 0000939 | ||
| Patent ductus arteriosus | 0001643 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
| Spondylolisthesis |
Slipped backbone
Displacement of one backbone compared to another
[ more ] |
0003302 |
| 1%-4% of people have these symptoms | ||
| Abnormal sternum morphology |
Abnormality of the sternum
Sternal anomalies
[ more ] |
0000766 |
| Aortic tortuosity | 0006687 | |
| Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Cervical spine instability | 0010646 | |
| 0001363 | ||
| Dermal translucency | 0010648 | |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
| Pneumothorax |
Collapsed lung
|
0002107 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
| Soft skin | 0000977 | |
| Subarachnoid hemorrhage | 0002138 | |
| Sudden death | 0001699 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Varicose veins | 0002619
DiagnosisMaking 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
Learn moreThese 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
In-Depth Information
Rare Medical News | |