Rare Pulmonology News

Disease Profile

Loeys-Dietz syndrome

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.

Unknown

Age of onset

Infancy

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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

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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)

Loeys-Dietz aortic aneurysm syndrome; Aortic aneurysm syndrome, Loeys-Dietz type

Categories

Blood Diseases; Congenital and Genetic Diseases; Lung Diseases;

Summary

Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression.[1] This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes.[1] It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.

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
Craniosynostosis
0001363
Generalized arterial tortuosity
Generalized twisted arteries
0004955
Joint contracture of the hand
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
Scoliosis
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 susceptibility
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 developmental delay
0001263
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Inguinal hernia
0000023
Intellectual disability
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
Osteoporosis
0000939
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Polydactyly
More than five fingers or toes on hands or feet
0010442
Postaxial polydactyly
0100259
Syndactyly
Webbed fingers or toes
0001159
Thin skin
0000963
Umbilical hernia
0001537
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Brachydactyly
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
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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

      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.
      • MedlinePlus Genetics contains information on Loeys-Dietz syndrome. 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. 
          Online Mendelian Inheritance in Man (OMIM)
          Online Mendelian Inheritance in Man (OMIM)
        • 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. Click on the link to view a sample search on this topic.

          References

          1. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. GeneReviews. July 11, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1133/. Accessed 10/2/2015.

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