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CORNELIA DE LANGE SYNDROME

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Exact incidence is unknown, but it is estimated at 1 in 10,000

SIGNS AND SYMPTOMS


  • Low birth weight (usually under 5 pounds/2.5 kilograms)
  • Delayed growth and small stature
  • Developmental delay
  • Limb differences (missing limbs or portions of limbs)
  • Small head size(microcephaly)
  • Thick eyebrows, which typically meet at midline
  • Long eyelashes
  • Short upturned nose and thin downturned lips
  • Excessive body hair
  • Small hands and feet
  • Small widely spaced teeth
  • Low-set ears
  • Hearing impairments
  • Vision abnormalities
  • Partial joining of the second and third toes
  • Incurved 5th finger
  • Gaestrooesophageal reflux
  • Seizures
  • Heart defect
  • Cleft palate
  • Feeding problems
  • Hypoplastic genitalia

TREATMENT


  • Physical therapy
  • Neurodevelopmental therapy
  • Occupational therapy
  • Postural correction
  • Kinesio taping
  • Sensory integration therapy
  • Aids and appliances support (orthosis)
  • Pre-vocational training
  • Special education(remedial tutoring)
  • Parents counselling
  • Feeding training
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