It is suspected that a gene possibly located on #3 may be responsible.

• Low birthweight (usually but not always under 5 lbs.)
  
• Delayed growth and small stature
  
• Small head size (microcephaly)

Typical Facial Features:

• Thin eyebrows which frequently meet at midline (synophyrs)
  
• Long eyelashes
  
• Short upturned nose
  
• Thin, downturned lips

Other Frequent Findings:

• Excessive body hair (hirsutism)
  
• Small hands and feet
  
• Partial joining of the second and third toes
  
• Incurved 5th fingers
  
• Gastroesophageal reflux
  
• Seizures
  
• Heart defects
  
• Cleft palate
  
• Bowel abnormalities
  
• Feeding difficulties
  
• Developmental delay

Found in More Severely Affected:
Limb abnormalities - including missing limbs or portions of limbs (usually fingers, hands or forearms)

Exact incidence is unclear, but it is thought to be 1:10,000 and 1:30,000 live births.

The life expectance is not known with certainty. Earlier many children died of serious medical problems in infance because their needs were not anticipated. This is no longer the case, and it is expected that most will live into adulthood.

Not in the usual sense of a gene passing directly from parent to child. It is likely that if a gene is involved, it is simply a rare and random mutation. This mutant gene is almost never passed on to the next generation because affected individuals seldom have children of their own. There have been rare instances in which mildly affected individuals have had children with the syndrome.

Not yet. There are tests which may help resolve some of the uncertainty felt by CdLS families in future pregancies. Genetic counsellors are able to provide current information on the development of other prenatal tests.

The Cornelia DeLange Syndrome Foundation, Inc.
60 Dyer Avenue
Collinsville, CT 06022-1273
1-203-693-0159
1-800-753-CdLS
1-800-223-8355

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