How rare is Jeune syndrome?

Jeune syndrome is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Jeune syndrome diagnosed?

Information about how Jeune syndrome is diagnosed, including clinical and imaging evaluations, is currently limited for this condition.

Are there treatments for Jeune syndrome?

Information about treatment options and management strategies for Jeune syndrome is currently limited for this condition.

What complications can arise from Jeune syndrome?

Jeune syndrome can lead to complications related to the narrow chest and short limbs. These features may affect breathing and overall lung function, which can be serious. It's important for families to monitor any breathing difficulties and work closely with healthcare providers to manage these issues.

How does Jeune syndrome affect daily life for patients?

Living with Jeune syndrome can present challenges due to the skeletal changes, such as shortened limbs and a narrow chest. This may affect mobility and physical activities. Families may need to adapt their home environment and seek support to help with daily tasks and ensure safety.

What is the life expectancy for someone with Jeune syndrome?

Information about life expectancy for individuals with Jeune syndrome is currently limited. The prognosis can vary based on the severity of symptoms and any complications that arise. Families should discuss individual cases with healthcare providers for a better understanding of what to expect.

Are there specific specialists that should be involved in the care of someone with Jeune syndrome?

Yes, individuals with Jeune syndrome may benefit from seeing specialists such as orthopedic doctors and pulmonologists. These specialists can help manage the skeletal and respiratory issues associated with the condition. It's important for families to have a team of healthcare providers to support their loved one’s needs.

Kisho

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Jeune syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Jeune syndrome

MONDO:0018770

Also known as:Asphyxiating Thoracic DystrophyJATDJeune asphyxiating thoracic dystrophy

Overview

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

OnsetANTENATAL, CONGENITAL, CHILDHOOD

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: before birth, at birth, childhood.

GeneReviews

Clinical Guidance

Ellis-van Creveld (EVC) syndrome is characterized by postaxial polydactyly of the hands, disproportionate short stature, features of ectodermal dysplasia, congenital heart disease, and radiologic abnormalities (such as short ribs and short tubular bones) . Other less common and more variable features include postaxial polydactyly of the feet, nonspecific dysmorphic facial features, and developmental delay. To date, approximately 250 individuals with EVC syndrome have been identified with pathogenic variants in one of the genes listed in . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Ellis-van Creveld Syndrome: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Ellis-van Creveld (EVC) syndrome have been published.

Suggestive Findings

EVC syndrome should be suspected in probands with a combination of the following clinical and imaging findings and family history.

Clinical findings

Bilateral postaxial polydactyly of the hands with or without postaxial polydactyly of the feet

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Jeune syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Ellis-van Creveld (EVC) syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with EVC syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Ellis-van Creveld Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Ellis-van Creveld Syndrome: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Jeune syndrome.

17 publications have been identified in PubMed for Jeune syndrome. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	8	47%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:474

GARD

Genetic and Rare Diseases Info Center

GARD:3049

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Jeune syndrome

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare condition that affects the development of the bones. It is mainly marked by a narrow chest, short limbs, and other specific skeletal changes such as a 'trident' appearance of the acetabula and alterations seen in the metaphyses. These features are noted on radiological images and help healthcare providers recognize the condition. This disorder is classified as a short-rib dysplasia, and its distinctive skeletal findings play an important role in its identification. Information about its full range of clinical presentation is based on these observable characteristics.

People with Jeune syndrome may show signs like a narrow thorax, shortened limbs, and notable changes in bone structure as seen on X-rays. These skeletal abnormalities are the key features noted in individuals with this condition.

Information about genetic causes, specific gene mutations, and risk factors is currently limited for this condition. Associated genes include DYNLT2B, IFT172, IFT140, DYNC2I1, EVC.

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Feature	% of Persons w/Feature	Comment
Postaxial polydactyly (hands)	98%	Bilateral in 95%
Limb shortening	83%	Prenatal limb shortening in 36%
Nail dystrophy/hypoplasia	78%	—
Short stature	73%	—
Congenital heart disease	66%	Atrial septal defect in 80%
Thoracic narrowing	66%	Typically symmetric
Dental anomalies	59%	—
Brachydactyly	35%	—
Postaxial polydactyly (feet)	34%	Bilateral in 90%
Upper lip defect	28%	—
Developmental delay	9%	Growth deficiency. Disproportionate short stature is common in individuals with EVC syndrome. About one third of individuals manifest growth deficiency in the perinatal setting, with shortened long bones evident on prenatal ultrasound, as well as short stature and/or limb shortening at birth .

GeneReviews

Differential Diagnosis

Table 4. Skeletal Ciliopathies of Interest in the Differential Diagnosis of Ellis-van Creveld Syndrome

Genes	Disorder	Skeletal Manifestations	Extraskeletal Manifestations	Comments
CEP120CFAP410DYNC2H1DYNC2I1 (WDR60)DYNC2I2 (WDR34)DYNC2LI1DYNLT2B (TCTEX1D2)GRK2IFT122IFT140IFT172IFT43IFT52IFT80IFT81KIAA0586KIAA0753TRAF3IP1TTC21BWDR19WDR35	Short-rib thoracic dysplasia (SRTD) (formerly asphyxiating thoracic dysplasia, or Jeune syndrome)1,2	Thoracic hypoplasia (wide spectrum of severity ranging from mild form to lethal condition); Handlebar clavicles; Short trident pelvis/ilia; Short tubular bones; Brachydactyly; Cone-shaped epiphyses; Postaxial polydactyly (uncommon)	Retinal degeneration; Pulmonary hypoplasia; Cystic disease (liver, pancreas, kidney); Kidney failure	Respiratory impairment (due to thoracic anomalies) is much more common severe in SRTD than in EVC syndrome, being the hallmark of SRTD.; Kidney liver are also commonly affected in SRTD.
Polydactyly is uncommon in SRTD. DYNC2I1 (WDR60)DYNC2I2 (WDR34)DYNC2LI1IFT122IFT80IFT81INTUNEK1TRAF3IP1WDR19	Short-rib polydactyly syndrome (SRPS)1,3	Severe thoracic hypoplasia; Polydactyly (axis variable); Bulbous end of long bones; Bowed radii ulnae; Tibial hypoplasia	Hydropic appearance; Lingual hamartomas; Bifid tongue; Malformations (heart, lung, epiglottis, kidney, pancreas, genitalia); Imperforate anus; Holoprosencephaly	SRPS is typically much more severe than EVC syndrome, w/high rate of perinatal mortality.; Multiple malformations are common in SRPS.; Polydactyly is variable in SRPS. EVC
EVC2	Weyers acrofacial (acrodental) dysostosis (WAD)1,4	Postaxial polydactyly; Mild short stature; Short hands w/mild brachydactyly	Nail dystrophy; Dental anomalies (conical teeth, hypodontia, delayed eruption); Multiple frenula	WAD is considered a mild form of EVC syndrome (less prominent skeletal features).; Postaxial polydactyly of feet is more common in WAD than in EVC syndrome. IFT122 IFT40 IFT43 WDR19
WDR35	Cranioectodermal dysplasia (CED) (Levin-Sensenbrenner)1,5	Craniosynostosis; Narrow thorax; Short proximal bones; Severe brachydactyly; Postaxial polydactyly (uncommon)	Ectodermal dysplasia; Characteristic facial features w/frontal bossing low-set ears; Loose skin joint laxity; Progressive kidney failure; Hepatic disease; Retinal dystrophy	Unlike EVC syndrome, CED is assoc w/craniosynostosis, kidney failure, hepatic disease, retinal dystrophy.; Polydactyly is uncommon in CED. IFT140 IFT172
WDR19	Mainzer-Saldino syndrome (MZSDS)1,6	Craniosynostosis; Short stature; Cone-shaped epiphyses of phalanges; Femoral dysplasia (small flattened epiphyses, short neck)	Microcephaly; Dental anomalies; Nystagmus; Retinal pigmentary dystrophy; Progressive kidney failure; Hepatic dise...	—

Source: GeneReviews — "Ellis-van Creveld Syndrome"

System/Concern	Evaluation	Comment
Growth	Measurement of height, weight, head circumference	Musculoskeletal
Respiratory	Assessment of respiratory failure /or restrictive lung disease	In those w/manifestations of significant thoracic narrowing /or respiratory distress
Dental	Dental exam	To assess for hypodontia teeth anomalies that require treatment for need to remove natal teeth
Cardiovascular	Echocardiogram	—
Development	Developmental assessment	—
Genitourinary	Clinical exam for genital anomalies renal/pelvic ultrasound	—
Neurologic	Neurologic eval	Consider brain MRI in those w/abnormal neurologic exam.
Audiologic	Audiologic eval	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of EVC syndrome to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or such as Parent to Parent; Social work involvement for parental support; Home nursing referral EVC = Ellis-van Creveld; MOI = mode of inheritance; PT = physical therapy 1.
Ellis-van Creveld Syndrome: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Polydactyly	Surgical amputation (if desired)	—
Musculoskeletal	Surgical correction of genu valgum	If required per orthopedic assessment PT
Respiratory failure	Mechanical ventilation	May be required in neonatal period /or in persons w/severe restrictive lung disease
Dental anomalies	Orthodontic /or surgical treatment of dental anomalies	—
Congenital heart disease	Standard treatment per cardiologist/cardiac surgeon	—
Developmental delay	Developmental services (PT /or OT) as needed in those w/developmental delay	—
Genitourinary malformations	Surgical correction (if indicated)	—
Hearing loss	Standard treatment for hearing loss	PT = physical therapy; OT = occupational therapy To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7.
Ellis-van Creveld Syndrome: Recommended Surveillance System/Concern	Evaluation	Frequency
Growth	Monitor length, weight, head circumference.	At least annually throughout childhood
Musculoskeletal	Orthopedic eval w/radiographic assessment	As needed Physical rehab medicine eval
Respiratory	Assess for manifestations of respiratory failure/ restrictive lung disease.	As needed, if signs/risks for respiratory failure are present
Dental	Monitor for dental eruption, overcrowding, dental morphology.	Annually throughout childhood
Cardiovascular	Echocardiogram	As needed
Development	Monitor developmental progress educational needs.	At each visit, until adulthood
Audiologic	Hearing eval	As needed, if hearing loss is present PT = physical therapy Evaluation of Relatives at Risk See for issues related to testing of at-risk relatives for genetic counseling purposes.

Kisho

Jeune syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

Jeune syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Jeune syndrome?

What are the symptoms of Jeune syndrome?

What causes Jeune syndrome?

How rare is Jeune syndrome?

How is Jeune syndrome diagnosed?

Are there treatments for Jeune syndrome?

What complications can arise from Jeune syndrome?

How does Jeune syndrome affect daily life for patients?

What is the life expectancy for someone with Jeune syndrome?

Are there specific specialists that should be involved in the care of someone with Jeune syndrome?

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications