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

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.

Showing of 148 |

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		0002983
Short thorax		0010306
Skeletal dysplasia		0002652
30%-79% of people have these symptoms
Abnormality of the clavicle	Abnormal collarbone	0000889
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Abnormality of the sternum	Sternal anomalies	0000766
Cholestasis		0001396
Hepatomegaly	Enlarged liver	0002240
5%-29% of people have these symptoms
Abnormality of retinal pigmentation		0007703
Abnormality of the liver	Abnormal liver Liver abnormality [ more ]	0001392
Absent tibia	Absent shankbone Absent shinbone [ more ]	0009556
Agenesis of corpus callosum		0001274
Anal atresia	Absent anus	0002023
Aplasia/Hypoplasia of the lungs	Absent/small lungs Absent/underdeveloped lungs [ more ]	0006703
Atrial septal defect	An opening in the wall separating the top two chambers of the heart	0001631
Bifid tongue	Cleft tongue Forked tongue Split tongue [ more ]	0010297
Brachycephaly	Short and broad skull	0000248
Cerebellar cyst		0002350
Cerebellar vermis hypoplasia		0001320
Cleft palate		0000175
Cleft upper lip	Harelip	0000204
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Craniosynostosis		0001363
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Dilation of lateral ventricles		0006956
Feeding difficulties in infancy		0008872
Fibular hypoplasia	Short calf bone	0003038
Genu valgum	Knock knees	0002857
Glucose intolerance	Impaired glucose tolerance	0000833
Hamartoma of tongue		0011802
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypoplasia of the ulna		0003022
Intestinal malrotation		0002566
Lateral clavicle hook	Hook-shaped collarbone	0000895
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microglossia	Abnormally small tongue Underdevelopment of the tongue [ more ]	0000171
Micropenis	Short penis Small penis [ more ]	0000054
Nephrocalcinosis		0000121
Nephropathy		0000112
Nyctalopia	Night blindness Night-blindness Poor night vision [ more ]	0000662
Obesity	Having too much body fat	0001513
Oculomotor apraxia		0000657
Oral cleft	Cleft of the mouth	0000202
Pachygyria		0001302
Pancreatic fibrosis		0100732
Polyhydramnios		0001561
Postaxial foot polydactyly	Extra toe attached near the little toe	0001830
Preaxial polydactyly		0100258
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Rod-cone dystrophy		0000510
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Ventricular septal defect		0001629
Ventriculomegaly		0002119
Percent of people who have these symptoms is not available through HPO
Acetabular spurs		0010454
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Anemia	Low number of red blood cells or hemoglobin	0001903
Ataxia		0001251
Autosomal recessive inheritance		0000007
Bell-shaped thorax		0001591
Bile duct proliferation		0001408
Bowing of the long bones	Bowed long bones Bowing of long bones [ more ]	0006487
Brachydactyly	Short fingers or toes	0001156
Broad palm	Broad hand Broad hands Wide palm [ more ]	0001169
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Chronic kidney disease		0012622
Chronic tubulointerstitial nephritis		0004743
Cone-shaped epiphyses of the phalanges of the hand	Cone-shaped end part of finger bones	0010230
Cone-shaped epiphysis	Cone-shaped end part of bone	0010579
Conjugated hyperbilirubinemia		0002908
Cystic hygroma		0000476
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Digenic inheritance		0010984
Disproportionate shortening of the tibia	Disproportionate shortening of the shankbone Disproportionate shortening of the shinbone [ more ]	0005766
Early ossification of capital femoral epiphyses		0008797
Elevated serum creatinine	Elevated creatinine High blood creatinine level Increased creatinine Increased serum creatinine [ more ]	0003259
Enlarged kidney	Large kidneys	0000105
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Femoral bowing	Bowed thighbone	0002980
Foot polydactyly	Duplication of bones of the toes	0001829
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Hand polydactyly	Extra finger	0001161
Hepatic failure	Liver failure	0001399
Hepatic fibrosis		0001395
Horizontal ribs		0000888
Hydrops fetalis		0001789
Hypoplasia of the capital femoral epiphysis	Small innermost thighbone end part Underdevelopment of the innermost thighbone end part [ more ]	0003090
Hypoplasia of the epiglottis		0005349
Hypoplastic iliac wing		0002866
Hypoplastic pelvis		0008839
Hypoplastic scapulae	Small shoulder blade	0000882
Hypospadias		0000047
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Inguinal hernia		0000023
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Irregular epiphyses	Irregular end part of long bone	0010582
Jaundice	Yellow skin Yellowing of the skin [ more ]	0000952
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Median cleft lip	Central cleft upper lip	0000161
Mesomelia		0003027
Metaphyseal irregularity	Irregular wide portion of a long bone	0003025
Metaphyseal spurs		0005054
Metaphyseal widening	Broad wide portion of long bone	0003016
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Narrow chest	Low chest circumference Narrow shoulders [ more ]	0000774
Nephronophthisis		0000090
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Pancreatic cysts		0001737
Pes valgus		0008081
Polycystic kidney dysplasia		0000113
Polycystic liver disease		0006557
Polydactyly		0010442
Polysyndactyly of hallux		0005873
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Postaxial polydactyly		0100259
Postaxial polysyndactyly of foot		0005817
Preaxial hand polydactyly	Extra thumb	0001177
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Pulmonary hypoplasia	Small lung Underdeveloped lung [ more ]	0002089
Pulmonary insufficiency		0010444
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Renal cyst		0000107
Renal dysplasia		0000110
Renal hypoplasia	Small kidneys Underdeveloped kidneys [ more ]	0000089
Respiratory insufficiency	Respiratory impairment	0002093
Retinal degeneration	Retina degeneration	0000546
Rhizomelia		0008905
Scoliosis	Abnormal curving of the spine	0002650
Short femoral neck	Short neck of thighbone	0100864
Short foot	Short feet Small feet [ more ]	0001773
Short iliac bones	Short pelvis bones	0100866
Short long bone	Long bone shortening	0003026
Short metacarpal	Shortened long bone of hand	0010049
Short phalanx of finger	Short finger bones	0009803
Short ribs		0000773
Short stature	Decreased body height Small stature [ more ]	0004322
Splenomegaly	Increased spleen size	0001744
Stage 5 chronic kidney disease		0003774
Syndactyly	Webbed fingers or toes	0001159
Thin upper lip vermilion	Thin upper lip	0000219
Thoracic dysplasia		0006644
Thoracic hypoplasia	Small chest Small thorax [ more ]	0005257
Variable expressivity		0003828
Visual loss	Loss of vision Vision loss [ more ]	0000572

Showing of 148 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2018

Do you have updated information on this disease? We want to hear from you.

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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis should include thoracolaryngopelvic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome and paternal uniparental disomy of chromosome 14 (see these terms). Visit the Orphanet disease page for more information.

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 related to 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: Samantha Alon Najemy
615 Charles E. Young Drive
South, Room 410
Los Angeles, CA 90095-7358
Telephone: 310-825-8998
E-mail: Salon@mednet.ucla.edu
Web site: https://www.uclahealth.org/ortho/isdr

Organizations 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

European Skeletal Dysplasia Network
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
New Castle upon Tyne
Manchester M13 9PT
NE1 3BZ, United Kingdom
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? We want to hear from you.

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.

GARD Answers GARD Answers

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Have a question? Contact a GARD Information Specialist.