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Jarcho-Levin Syndrome
Wednesday, 17 November 2004
Thursday, 09 December 2004


Jarcho- Levin syndrome(JLS) is a rare, inherited, genetic condition that is characterized by the combination of short stature (short-trunk dwarfism), vertebral and rib malformations and respiratory problems due to deformity of the chest cavity. There are two forms or subtypes of the condition: spondylocostal dysostosis and spondylothoracic dysplasia.


Jarcho-Levin syndrome affects males and females at equal rates. Though patients come from all ethnic backgrounds, there may be a higher incidence in persons of Spanish descent. Several of the cases described in the medical literature come from marriages with some degree of blood relation between the parents.

Signs and Symptoms

The following may be exhibited in people with JLS: Spondylothoracic Dysplasia (STD): 1. Vertebral defects: unsegmented vertebrae, block vertebrae, sickle-looking vertebrae 2. Fusion of all the ribs at their junction with the vertebrae in the back 3. Short and rigid neck 4. Short thorax (upper part of the trunk between the neck and abdomen) 5. Protruding abdomen 6. Hernias (inguinal (groin), in 95% of cases; umbilical, in 10% of cases) 7. Urinary tract abnormalities 8. Disproportionate dwarfism, with short trunk and arms that appear to be excessively long (though they actually are of normal length) 9. Respiratory complications: frequent infections, such as pneumonia; pulmonary hypertension Spondylocostal Dysostosis (SCD): 1. Vertebral malformations: unsegmented vertebrae, misshapen vertebrae, decreased number of vertebrae 2. Asymmetric rib abnormalities: broadening, bifurcation (splitting) and fusion without fan-like appearance of the thorax 3. Progressive scoliosis (abnormal curvature of the spine) due to asymmetry of rib abnormalities Associated features: a. Congenital heart disease b. Urogenital and anal anomalies c. Limb abnormalities d. Torticollis (contracture of neck muscles that deviates the head from its normal position) e. Hernias (diaphragmatic, inguinal, umbilical)

Possible Causes

Spondylocostal dysostosis (SCD) is a rare genetic condition that in most cases has been linked to a mutation on a gene in chromosome 19. Those cases are inherited in an autosomal recessive manner (a defective copy of the gene from each parent must be inherited for disease to occur). It is thought that the gene that is mutated in this condition is involved in the signaling pathways that lead to proper formation of the skeleton. A few autosomal dominant cases (only one defective copy of the gene inherited is needed for disease) of SCD have been described as well. Although the specific gene that is involved in Spondylothoracic dysplasia (STD) has not been identified yet, scientists believe that it is located on chromosome 2. STD syndrome is inherited as an autosomal recessive disorder.


It is possible to suspect the diagnosis of either condition prenatally (as early as the first trimester) with the use of ultrasound since skeletal deformities should be clearly visualized. Still, most of the cases are diagnosed after birth based on an extensive physical exam. Chest X-rays are extremely useful in making the diagnosis.


In the neonatal period (right after birth), babies with Jarcho-Levin syndrome may be in respiratory distress and can progress to respiratory failure, sometimes requiring a breathing tube. If a mechanical ventilator is needed, excessive pressure into the lungs should be avoided in order to prevent injury. This is due to the restriction of the chest cavity by anatomical deformities, and not from lung immaturity. Children with Jarcho Levin syndrome should be fed continuously, rather than intermittently, with smaller amounts of food in order to avoid extensive stretching of the stomach, which can put increased pressure on the diaphragm and make breathing even more difficult. Infection management should be aggressive at any age in children with Jarcho-Levin syndrome. Various orthopedic surgeries may be useful in improving the quality of life of the child. Some children with SCD (but not STD) may benefit from an experimental surgery involving expandable titanium ribs.


Prognosis for children with Jarcho Levin syndrome is variable and depends on the severity of their problems. In the past, STD used to be considered a lethal condition. However, new research suggests that 56% of children with STD survive into adulthood and that 100% of the patients that live to 6 months of age survive to adulthood. For patients with SCD, survival is generally good and higher than overall rate of survival of children with STD because children with SCD usually have fewer respiratory problems. However, it is important to consider the severity of anomalies in a given child with SCD when considering prognosis. It is important to remember that children with Jarcho-Levin syndrome have normal intelligence and, with proper medical assistance, have the potential to achieve all their goals and live well into adulthood.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Jarcho-Levin Syndrome
This website contains a brief description of the condition and 2 support groups to contact.

Orphanet: Jarcho Levin Syndrome
This website describes the condition and has links to specialty clinics, research projects and support groups.

Google Search for Jarcho-Levin Syndrome

References and Sources

Cornier AS, Ramirez N, Carlo S, Reiss A (2003). Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr. Dec;15(6):614-20. Cornier AS, Ramirez N, Arroyo S, Acevedo J, Garcia L, Carlo S, Korf B (2004). Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. Am J Med Genet. Jul 15;128A(2):120-6 OMIM: Spondylocostal Dysostosis, Autosomal Recessive 1