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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

All ages

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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.
orphanet

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 susceptibility
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
Scoliosis
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 palate
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
Osteoporosis
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
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cervical spine instability
0010646
Craniosynostosis
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

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

In-Depth Information

  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Loeys-Dietz syndrome type 3. Click on the link to view a sample search on this topic.

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