Jarcho-Levin Syndrome: Understanding This Rare Congenital Defect

Symptoms, Diagnosis and Treatment for Jarcho-Levin Syndrome

prenatal ultrasound
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Jarcho-Levin syndrome is a genetic birth defect which causes malformed bones in the spine (vertebrae) and ribs. Infants born with Jarcho-Levin syndrome have short necks, limited neck movement, a short stature and difficulty breathing, due to small, malformed chests that have a distinctive crab-like appearance.

Jarcho-Levin syndrome comes in 2 forms that are inherited as recessive genetic traits and called:

  • Spondylocostal Dysostosis type 1 (SCDO1)
  • Spondylocostal Dyostosis type 2 (SCDO2) (this form is milder than SCDO1, since not all of the vertebrae are affected)

​There is another group of similar disorders called spondylocostal dysostoses (not as severe as Jarcho-Levin syndrome) that are also characterized by a malformed spine and rib bones.

Jarcho-Levin syndrome is very rare and affects both males and females. It is not known exactly how often it occurs but there seems to be a higher incidence in people of Spanish background.

Symptoms of Jarcho-Levin Syndrome

In addition to some of the symptoms mentioned in the introduction, other symptoms of Jarcho-Levin syndrome may include:

  • Malformed bones of the vertebrae (spine), such as fused bones
  • The malformed spine bones cause the spine to curve outward (kyphosis), inward (lordosis), or sideways (scoliosis)
  • The malformed spine bones and abnormal curves make the torso small and cause for a short stature which is almost dwarf like
  • Some of the ribs are fused together and others are malformed, giving the chest a crab-like appearance
  • The neck is short and has limited range of motion
  • Distinctive facial features and mild cognitive deficit may sometimes occur
  • Birth defects may also affect the central nervous system, the genitals and reproductive system, or the heart
  • A malformed chest cavity that is too small for the infant’s lungs (especially as the lungs grow) may cause repeated and severe infections of the lungs (pneumonia).
  • Webbed (syndactyly), elongated and permanently bent (camptodactyly) fingers are common
  • A broad forehead, wide nasal bridge, nostrils that tip forward, upwardly slanted eyelids, and an enlarged posterior skull
  • An obstruction of the bladder may occasionally cause a swollen stomach and pelvis in an infant
  • Undescended testicles, absent external genitalia, a double uterus, closed or absent anal and bladder openings, or a single umbilical artery are other symptoms that may be evident

Diagnosis of Jarcho-Levin Syndrome

Jarcho-Levin syndrome is usually diagnosed in the newborn infant based on the appearance of the child and the presence abnormalities in the spine, back and chest. Sometimes a prenatal ultrasound examination may reveal malformed bones. Although it is known that Jarcho-Levin syndrome is associated with a mutation in the DLL3 gene, there is no specific genetic test available for diagnosis.

Treatment for Jarcho-Levin Syndrome

Infants born with Jarcho-Levin syndrome have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and it is difficult for the child to survive beyond the age of 2 years. Treatment usually consists of intensive medical care, including treatment of respiratory infections and bone surgery. 

Sources:

National Organization for Rare Disorders. Jarcho Levin Syndrome. Accessed Feb 13, 2016.

Beine, O., J. Bolland, A. Verloes, F.R. Lebrun, J. Khamis, & Ch. Muller. "Spondylocostal dysostosis: A rare genetic disease." Rev Med Liege 59(2004): 513-516.

Takikawa, K., N. Haga, T. Maruyama, A. Nakatomi, T. Kondoh, Y. Makia, A. Hata, H. Kawabata, & S. Ikegawa. "Spine and rib abnormalities and stature in spondylocostal dysostosis." Spine 31(2006): E192-197.

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