Jeune syndrome

Title

Other Names:

Asphyxiating thoracic dystrophy; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy; Asphyxiating thoracic dystrophy; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy; Jeune's syndrome; Chondroectodermal dysplasia-like syndrome; ATD See More

Categories:

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases; Musculoskeletal Diseases See More

Summary 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]

Last updated: 4/29/2015

Symptoms 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]

Last updated: 4/29/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of pelvic girdle bone morphology	Very frequent (present in 80%-99% of cases)
Abnormality of the ribs	Very frequent (present in 80%-99% of cases)
Micromelia	Very frequent (present in 80%-99% of cases)
Short thorax	Very frequent (present in 80%-99% of cases)
Skeletal dysplasia	Very frequent (present in 80%-99% of cases)
Abnormality of the clavicle	Frequent (present in 30%-79% of cases)
Abnormality of the metaphyses	Frequent (present in 30%-79% of cases)
Abnormality of the sternum	Frequent (present in 30%-79% of cases)
Cholestasis	Frequent (present in 30%-79% of cases)
Hepatomegaly	Frequent (present in 30%-79% of cases)
Abnormality of retinal pigmentation	Occasional (present in 5%-29% of cases)
Abnormality of the liver	Occasional (present in 5%-29% of cases)
Agenesis of corpus callosum	Occasional (present in 5%-29% of cases)
Anal atresia	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the lungs	Occasional (present in 5%-29% of cases)
Atrial septal defect	Occasional (present in 5%-29% of cases)
Bifid tongue	Occasional (present in 5%-29% of cases)
Brachycephaly	Occasional (present in 5%-29% of cases)
Cerebellar cyst	Occasional (present in 5%-29% of cases)
Cerebellar vermis hypoplasia	Occasional (present in 5%-29% of cases)
Cleft palate	Occasional (present in 5%-29% of cases)
Cleft upper lip	Occasional (present in 5%-29% of cases)
Cognitive impairment	Occasional (present in 5%-29% of cases)
Cryptorchidism	Occasional (present in 5%-29% of cases)
Death in infancy	Occasional (present in 5%-29% of cases)
Delayed speech and language development	Occasional (present in 5%-29% of cases)
Dilation of lateral ventricles	Occasional (present in 5%-29% of cases)
Feeding difficulties in infancy	Occasional (present in 5%-29% of cases)
Fibular hypoplasia	Occasional (present in 5%-29% of cases)
Genu valgum	Occasional (present in 5%-29% of cases)
Glucose intolerance	Occasional (present in 5%-29% of cases)
Hepatic fibrosis	Occasional (present in 5%-29% of cases)
Hydrocephalus	Occasional (present in 5%-29% of cases)
Hypoplasia of the ulna	Occasional (present in 5%-29% of cases)
Intestinal malrotation	Occasional (present in 5%-29% of cases)
Microcephaly	Occasional (present in 5%-29% of cases)
Microglossia	Occasional (present in 5%-29% of cases)
Micropenis	Occasional (present in 5%-29% of cases)
Nephrocalcinosis	Occasional (present in 5%-29% of cases)
Nephropathy	Occasional (present in 5%-29% of cases)
Nyctalopia	Occasional (present in 5%-29% of cases)
Obesity	Occasional (present in 5%-29% of cases)
Oculomotor apraxia	Occasional (present in 5%-29% of cases)
Oral cleft	Occasional (present in 5%-29% of cases)
Pachygyria	Occasional (present in 5%-29% of cases)
Pancreatic fibrosis	Occasional (present in 5%-29% of cases)
Polyhydramnios	Occasional (present in 5%-29% of cases)
Postaxial foot polydactyly	Occasional (present in 5%-29% of cases)
Postaxial polydactyly	Occasional (present in 5%-29% of cases)
Preaxial polydactyly	Occasional (present in 5%-29% of cases)
Renal insufficiency	Occasional (present in 5%-29% of cases)
Rod-cone dystrophy	Occasional (present in 5%-29% of cases)
Talipes equinovarus	Occasional (present in 5%-29% of cases)
Toe syndactyly	Occasional (present in 5%-29% of cases)
Ventricular septal defect	Occasional (present in 5%-29% of cases)
Absent tibia	-
Acetabular spurs	-
Anemia	-
Ataxia	-
Autosomal recessive inheritance	-
Bell-shaped thorax	-
Bile duct proliferation	-
Bowing of the long bones	-
Brachydactyly syndrome	-
Cataract	-
Chronic kidney disease	-
Chronic tubulointerstitial nephritis	-
Cone-shaped epiphyses of the phalanges of the hand	-
Cone-shaped epiphysis	-
Conjugated hyperbilirubinemia	-
Cystic hygroma	-
Digenic inheritance	-
Disproportionate shortening of the tibia	-
Early ossification of capital femoral epiphyses	-
Elevated serum creatinine	-
Enlarged kidney	-
Failure to thrive	-
Femoral bowing	-
Foot polydactyly	-
Full cheeks	-
Hamartoma of tongue	-
Hand polydactyly	-
Hepatic failure	-
Horizontal ribs	-
Hydrops fetalis	-
Hypoplasia of the capital femoral epiphysis	-
Hypoplasia of the epiglottis	-
Hypoplastic iliac wing	-
Hypoplastic pelvis	-
Hypoplastic scapulae	-
Hypospadias	-
Infantile onset	-
Inguinal hernia	-
Intellectual disability	-
Irregular epiphyses	-
Jaundice	-
Lateral clavicle hook	-
Macrocephaly	-
Median cleft lip	-
Mesomelia	-
Metaphyseal irregularity	-
Metaphyseal spurs	-
Metaphyseal widening	-
Myopia	-
Narrow chest	-
Nephronophthisis	-
Nystagmus	-
Pancreatic cysts	-
Polycystic kidney dysplasia	-
Polycystic liver disease	-
Polydactyly	-
Polysyndactyly of hallux	-
Postaxial hand polydactyly	-
Postaxial polysyndactyly of foot	-
Proteinuria	-
Pulmonary hypoplasia	-
Pulmonary insufficiency	-
Recurrent respiratory infections	-
Renal cyst	-
Renal dysplasia	-
Renal hypoplasia	-
Respiratory insufficiency	-
Retinal degeneration	-
Rhizomelia	-
Scoliosis	-
Short femoral neck	-
Short foot	-
Short iliac bones	-
Short long bone	-
Short metacarpal	-
Short phalanx of finger	-
Short ribs	-
Splenomegaly	-
Stage 5 chronic kidney disease	-
Syndactyly	-
Thoracic dysplasia	-
Thoracic hypoplasia	-
Variable expressivity	-
Visual loss	-

Last updated: 5/8/2017

Cause 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]

Last updated: 4/29/2015

Inheritance Inheritance

Jeune syndrome is inherited in an autosomal recessive manner.^[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated: 4/29/2015

Diagnosis 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]

Last updated: 4/29/2015

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 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.

Last updated: 4/29/2015

Prognosis Prognosis

The long-term outlook (prognosis) for people with Jeune syndrome varies significantly from person to person. Although affected people can live into adolescence or adulthood, many succumb to respiratory failure or infections during infancy.^[2]^[3]

The risk of severe respiratory complications decreases after 2 years of age. Renal involvement is the major prognostic factor in people who survive past infancy and early childhood.^[2]^[3]

Last updated: 4/29/2015

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are studying or have studied Jeune syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Patient Registry

International Skeletal Dysplasia Registry
UCLA-OHRC
Attn: Alisa Zargaryan
615 Charles E. Young Drive
South, Room 410
Los Angeles, CA 90095-7358
Telephone: 310-825-8998
E-mail: AZargaryan@mednet.ucla.edu
Web site: http://ortho.ucla.edu/body.cfm?id=279

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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

European Skeletal Dysplasia Network
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building
Oxford Road
Manchester M13 9PT
United Kingdom
Telephone: 0161 276 3202
Fax: 0161 276 4058
E-mail: info@esdn.org
Website: http://www.esdn.org/eug/Home
Little People of America, Inc.
250 El Camino Real, Suite 201
Tustin, CA 92780
Toll-free: 888-572-2001
Telephone: 714-368-3689
Fax: 714-368-3367
E-mail: info@lpaonline.org
Website: http://www.lpaonline.org/
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: contactus@magicfoundation.org
Website: https://www.magicfoundation.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.
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.
Short-rib thoracic dysplasia 1 with or without polydactyly
Short-rib thoracic dysplasia 2 with or without polydactyly
Short-rib thoracic dysplasia 3 with or without polydactyly
Short-rib thoracic dysplasia 4 with or without polydactyly
Short-rib thoracic dysplasia 5 with or without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 8 with or without polydactyly
Short-rib thoracic dysplasia 9 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 11 with or without polydactyly
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.

News & Events News & Events

News

Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

NCATS Co-Sponsored Conferences

2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference Sunday, February 13, 2011 - Friday, February 18, 2011
Location: Ventura, CA
Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.

Contact:

Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
- Agenda ( - 74KB)
- Summary ( - 14KB)
Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 - Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.

Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909

Co-funding Institute(s): National Institute of Child Health and Human Development

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.