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Disease Profile

Jeune 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

Neonatal

ICD-10

Q77.2

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.

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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)

Asphyxiating thoracic dystrophy; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases;

Summary

Jeune syndrome is a rare condition that primarily affects the bones. Common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing life-threatening breathing difficulties. Other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes. People who survive the breathing challenges of infancy, may later develop severe kidney or heart problems.[1][2] In many cases the cause of Jeune syndrome is unknown; however, changes (mutations) in several different genes (IFT80, DYNC2H1, WDR19, IFT140 and TTC21B) have been identified in some families with the condition. Jeune syndrome is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[2][3]

Symptoms

Jeune syndrome is a rare condition that primarily affects the bones. People affected by this condition are typically born with skeletal abnormalities such as:[1][2]

  • Small, narrow chest
  • Short ribs
  • Shortened bones of the arms and legs
  • Unusually shaped pelvis
  • Extra fingers and/or toes

Because of the chest and rib abnormalities (which lead to a characteristic "bell-shaped" chest cavity), babies with Jeune syndrome often develop life-threatening breathing difficulties. As a result, many affected people do not live past infancy or early childhood.[1]

Less commonly, Jeune syndrome is associated with only mild breathing problems which allow for survival into adolescence or early adulthood. However, those that live past infancy may experience severe health problems of the kidney and/or heart.[1]

Other features of Jeune syndrome include high blood pressure, liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.[1][2]

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
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the ribs
Rib abnormalities
0000772
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Short thorax
Shorter than typical length between neck and abdomen
0010306
Skeletal dysplasia
0002652
30%-79% of people have these symptoms
Abnormal clavicle morphology
Abnormal collarbone
0000889
Abnormal sternum morphology
Abnormality of the sternum
Sternal anomalies

[ more ]

0000766
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Brachydactyly
Short fingers or toes
0001156
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Respiratory insufficiency
Respiratory impairment
0002093
Short foot
Short feet
Small feet

[ more ]

0001773
5%-29% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Abnormality of the liver
Abnormal liver
Liver abnormality

[ more ]

0001392
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs

[ more ]

0006703
Feeding difficulties in infancy
0008872
Nephronophthisis
0000090
Nephropathy
0000112
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Short stature
Decreased body height
Small stature

[ more ]

0004322
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770

Cause

In many cases, the cause of Jeune syndrome is unknown. However, changes (mutations) in several different genes (IFT80, DYNC2H1, WDR19, IFT140 and TTC21B) have been identified in some families with the condition. These genes all provide instructions for making a protein that is found in cell structures called cilia, which are microscopic, finger-like projections on the surface of cells. Tt is unclear how mutations that disrupt the development and maintenance of cilia lead to the signs and symptoms associated with Jeune syndrome.[2]

Diagnosis

In some cases, a diagnosis of Jeune syndrome may be suspected before birth if characteristic signs and symptoms are present on ultrasound. After birth, Jeune syndrome is based on X-ray findings. In some families, the diagnosis can be confirmed with genetic testing.[2][3]

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.

    Treatment

    The treatment of Jeune syndrome is based on the signs and symptoms present in each person. Most people with Jeune syndrome experience breathing difficulties that may become more severe over time due to multiple respiratory infections. In very severe cases, mechanical ventilation may be necessary shortly after birth and surgical interventions (i.e. chests reconstruction) may be recommended. In those who are less severely affected, respiratory infections should be aggressively managed to prevent or delay respiratory failure.[2][3]

    Dialysis and renal transplantation may be indicated for people with kidney problems.[2]

    Medscape Reference's Web site offers more specific information on the treatment and management of Jeune syndrome. Please click the link to access this resource.

    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

      • Genetics Home Reference (GHR) contains information on Jeune syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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.
        • 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 Jeune syndrome. Click on the link to view a sample search on this topic.

          References

          1. Asphyxiating thoracic dystrophy. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition=asphyxiatingthoracicdystrophy. Accessed 1/21/2010.
          2. Harold Chen, MD, MS, FAAP, FACMG. Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Medscape Reference. April 2015; https://emedicine.medscape.com/article/945537-overview.
          3. Jeune Syndrome. Orphanet. December 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474.

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