Jarcho–Levin dysplasia

Jarcho–Levin syndrome is a rare genetic disorder characterized by significant malformations of the bones of the spine (vertebrae) and ribs and includes respiratory insufficiency or other abnormalities. Children born with Jarcho–Levin syndrome have short necks, limited neck mobility due to abnormalities of the cervical vertebrae, and short stature.

Symptoms and Diagnosis

In most cases, children with Jarcho–Levin syndrome have breathing difficulties and are prone to recurrent respiratory infections (pneumonia), which may lead to life-threatening complications. The vertebrae are fused, and the ribs do not develop properly; the thoracic cavity is too small for the developing lungs. Symptoms may include a broad forehead, a wide nasal root, nostrils tilted forward, upward-slanting palpebral fissures, and an enlarged posterior skull. Gastric and pelvic distension may occur as a result of bladder obstruction. Other findings may include undescended testes, absent external genitalia, a double uterus, closed or absent anal and urinary openings, and possible brain abnormalities.

There are two forms of Jarcho–Levin syndrome, which is inherited in an autosomal recessive pattern:

• Spondylocostal dysostosis type 1 (SCDO1)
• Spondylocostal dysostosis type 2 (SCDO2)

SCDO2 is milder than SCDO1 in that not all vertebrae are affected. Genetic diseases are determined by combinations of genes for a particular trait located on chromosomes inherited from both the father and the mother. All individuals carry 4–5 abnormal genes. Parents who are closely related have a higher likelihood of transmitting such disorders—there is an increased risk of having children with a recessively inherited genetic disorder.

Jarcho–Levin syndrome is a very rare disorder that affects males and females equally. A higher incidence appears to occur in Spanish-speaking populations.

• respiratory difficulties
• respiratory infections
• ribs do not develop properly
• vertebrae are fused
• the thoracic cavity is small for the developing lungs
• facial features – broad forehead and nasal root, nostrils tilted forward, slanted eyelids, and an enlarged posterior skull