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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Campomelic dysplasia


Other Names for this Disease
  • CMD1
  • CMPD
  • CMPD1
  • CMPD1/SRA1
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Symptoms


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What are the signs and symptoms of campomelic dysplasia?

Individuals with campomelic dysplasia are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia also usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and feet that are abnormally rotated (club feet). When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; they can be male (testes), female (ovaries), or a combination of the two. Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre-Robin sequence, is common in people with campomelic dysplasia. Pierre-Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia. Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.[1]
Last updated: 12/29/2010

References
  1. Campomelic dysplasia. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/campomelic-dysplasia. Accessed 12/29/2010.