Skip to Main Content


Key Points

  • “Jarcho–Levin” syndrome refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones.

  • Inheritance may be autosomal recessive, autosomal dominant, or sporadic.

  • Chromosomes are normal.

  • Delivery should occur in a tertiary center due to increased likelihood of respiratory complications.

  • No longer considered to be a lethal condition.

  • All affected individuals are developmentally normal.


Jarcho–Levin syndrome is an eponym that refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones. The name Jarcho–Levin syndrome was attached to the condition because of an initial report in 1938 by Saul Jarcho and Paul Levin who described a brother and sister with severe malformations of their vertebral columns. In addition, the mother of these children had a minor cervical vertebral anomaly. The infants demonstrated a shortened thorax and a prominent abdomen. Both infants died from respiratory failure during the first year of life.


Subsequently, the classification of genetic syndromes that include rib and vertebral anomalies as their major symptoms has become progressively more confusing. Jarcho and Levin’s original disorder was termed “hereditary malformation of the vertebral bodies.” Related or identical conditions have also been called familial dwarfism due to hereditary multiple hemivertebrae, spondylothoracic dysostosis, spondylocostal dysplasia, spondylocostal dysostosis, costovertebral dysplasia, and occipito-facial-cervical-thoracic-abdominal-digital dysplasia. The nosology of these various conditions is further complicated by the fact that some of them are inherited as autosomal dominant genes and some are associated with autosomal recessive inheritance (Table 96-1). The condition that most clinicians agree is the classical presentation of Jarcho–Levin syndrome is spondylothoracic dysplasia, and consists of multiple rib and vertebral anomalies associated with a “crab-claw” or “fanlike” configuration of the ribs on X-ray (Figures 96-1 and 96-2), with a resultant small thoracic volume and symptoms coincident with respiratory insufficiency. The majority of patients who manifest the classic Jarcho–Levin syndrome can trace their ancestry to Puerto Rico (Perez-Comas and Garcia-Castro, 1974).

Table Graphic Jump Location
Table 96-1Clinical and Genetic Features in the Jarcho–Levin Spectrum
Figure 96-1

Anteroposterior radiograph of a newborn with Jarcho–Levin syndrome, demonstrating deformation of chest with characteristic “crab-claw” appearance.

Graphic Jump Location

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.