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Other Names :  

Bushy syndrome, Amsterdam dwarfism

What is Cornelia De Lange Syndrome ?  

A genetic disorder with several developmental anomalies, affecting the physical and intellectual development of a child.

Cause(s) :  
  • Genetic mutations of unknown origin
  • Mutations affecting cohesion complex
Symptoms :  
  • Low birth weight
  • Delayed growth, small stature and small head size
  • Developmental delays
  • Facial features: Long eyelashes, thick eyebrows - meeting at midlien, small widely spaced teeth, low-set ears, short upturned nose and thin downturned lips.
  • Cleft palate
  • Feeding problems
  • Excessive body hair
  • Visual and hearing impairments
  • Small hands and feet
  • Partial joining of the second and third toes
  • Incurved 5th fingers
  • Hypoplastic genetalia
  • Gastroesophageal reflux and GI tract difficulties like poor appetite, diarrhea, gaseous distention
  • Heart defects like pulmonary stenosis, Ventricular and atrial septal defects, coarctation of the aorta)
  • Behaviour problems like self-stimulation, aggression, self-injury or strong preference to a structured routine.
Diagnosis and Tests :  
  • Primarily clinical diagnosis and medical signs
  • Genetic testing
Category :  Congenital Conditions

Specialist to consult :  Paediatrics

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