Jarcho Levin Syndrome inherited in an autosomal recessive pattern. Jarcho-Levin syndrome is a specific spondylocostal and spondylothoracic dysostosis characterized by the disorganization

The spine: hemi vertebrae and/or fused vertebrae.

The thorax: a crablike appearance of the rib cage.

Clinical types

Type I- inherited with an autosomal recessive pattern and is a severe form. It is characterized by severe involvement of the spine and generally causes respiratory failure and death in the affected children by 15 months of age. It can be diagnosed in utero.

Type II- inherited with an autosomal dominant trait and is a milder form. It is characterized by milder involvement and is associated with nearly normal longevity. It cannot be diagnosed in utero.

Clinical features

• Short trunk dwarfism
• Prominent skull
• Broad and wide forehead
• Wide nasal bridge
• Anteverted nostrils
• Short thorax
• Crab-like rib cage
• Vertebral defects
• Flaring of ribs
• Posterior fusion of ribs
• Absence of ribs
• Short webbed neck
• Low hairline at back of neck
• Pectus carinatum
• Increased anteroposterior chest diameter
• Lordosis
• Kyphoscoliosis
• Protruding abdomen
• Small chest cavity

Tests and diagnosis

The prenatal diagnosis of Jarcho-Levin syndrome has been made in families at risk, by radiographs, ultrasounds and amniocentesis.

Associated anomolies

• Spina bifida
• Club feet
• Neural tube defects
• Renal and urinary tract abnormalities
• Hernia
• Anal atresia
• Cleft palate

Prognosis

Babies born with Jarcho-Levin syndrome may be very healthy and grow up to lead normal lives.

However, Jarcho-Levin syndrome commonly leads to respiratory insufficiency and death during the first years of life, usually by 14-16 months of age.

These individuals will often develop pulmonary complications and die in infancy or childhood