An Overview of Jeune Syndrome

Understanding Asphyxiating Thoracic Dystrophy

Updated on July 06, 2022

Medically reviewed by Keri Peterson, MD

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is an inherited form of dwarfism which produces short limbs, a small chest, and kidney problems. Its chief manifestation, however, is respiratory distress due to the small rib cage. It is estimated to occur in 1 per 100,000-130,000 live births and affects people of all ethnic backgrounds.

Asphyxiating thoracic dysplasia X-ray — James Heilman MD / Wikimedia Commons / CC BY 3.0

Symptoms

Individuals with Jeune syndrome have some physical characteristics in common:

A long, narrow, and abnormally small chest with reduced lung capacity
Short arms and legs compared to the trunk and overall small stature (short-limbed dwarfism)
Kidney lesions which may lead to kidney failure

Other symptoms which individuals with Jeune syndrome may have are:

Intestinal malabsorption
Retinal degeneration
Liver problems
Heart and circulatory problems

Often, severe respiratory distress appears during early infancy. In other cases, breathing problems are less severe, and abnormalities of the kidneys or gastrointestinal system may predominate.

Diagnosis

Jeune syndrome is usually diagnosed at birth based on the chest deformity and short-limbed dwarfism. Severely affected infants will have respiratory distress. Milder cases may be diagnosed by chest X-ray.

Treatment

The most important area of medical care for an individual with Jeune syndrome is preventing and treating respiratory infections. Unfortunately, many infants and children with the syndrome die from respiratory failure brought on by a very small chest and repeated respiratory infections.

In some cases, enlarging the rib cage with chest reconstructive surgery has been successful in relieving respiratory distress. This surgery is difficult and risky and has been reserved for children with severe breathing difficulties.

Individuals with Jeune syndrome may also develop high blood pressure from kidney disease. Their kidneys may eventually fail, which is treated by dialysis or kidney transplantation.

Many individuals with Jeune syndrome who survive infancy eventually begin to have normal chest development.

Genetic Counseling

Jeune syndrome is an inherited autosomal recessive disorder. This means that both parents must be carriers of the defective gene in order for a child to inherit the syndrome. Thus, if parents give birth to an affected child, this means both are carriers, and that each subsequent child they have has a 25% chance of inheriting the syndrome.

Edited by Richard N. Fogoros, MD

10 Sources

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.

Prasad PL, Prasad AN. Jeune Syndrome. Med J Armed Forces India. 2006;62(3):293–294. doi:10.1016/S0377-1237(06)80028-6
Schmidts M, Vodopiutz J, Christou-Savina S, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013;93(5):932–944. doi:10.1016/j.ajhg.2013.10.003
Mukherji RN, Moss PD. The differential diagnosis of the short-limbed dwarfs presenting at birth. Postgrad Med J. 1977;53(618):204–211. doi:10.1136/pgmj.53.618.204
Bujakowska KM, Zhang Q, Siemiatkowska AM, et al. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015;24(1):230–242. doi:10.1093/hmg/ddu441
Shah KJ. Renal lesion in Jeune's syndrome. Br J Radiol. 1980;53(629):432-6. doi:10.1259/0007-1285-53-629-432
Reuter S, Moser C, Baack M. Respiratory distress in the newborn. Pediatr Rev. 2014;35(10):417–429. doi:10.1542/pir.35-10-417
de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr. 2010;169(1):77–88. doi:10.1007/s00431-009-0991-3
Drebov RS, Katsarov A, Gagov E, Atanasova N, Penev Z, Iliev A. Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery "On Demand". Surg J (N Y). 2017;3(1):e17–e22. doi:10.1055/s-0037-1598043
Jeune syndrome. Genetic and Rare Diseases Information Center.
Goldstein DY, Prystowsky M. Autosomal Recessive Inheritance: Cystic Fibrosis. Acad Pathol. 2017;4:2374289517691769. doi:10.1177/2374289517691769