CdLS Diagnostic Criteria Checklist

Cornelia de Lange Syndrome (CdLS)

Diagnostic Criteria Checklist

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Diagnostic criteria for Cornelia de Lange Syndrome (CdLS) were created by the USA CdLS Foundation’s Medical Director Antonie Kline, M.D., in collaboration with members of the Clinical Advisory Board of the CdLS Foundation and the Scientific Advisory Committee of the World CdLS Federation.

If molecular testing has identified a mutation in one of the associated genes, the individual has CdLS. Otherwise, clinical findings should meet facial criteria, as well as criteria for two to three of six other system categories. At least one of the involved systems should be in the areas of growth, development or behavior. If these criteria are met, then the individual is diagnosed clinically with CdLS.

The checklist was developed to assist practitioners in diagnosing CdLS

        Coming to a Diagnosis:
  Positive mutation on CdLS gene testing; OR
  Facial findings and meet criteria from two major categories (growth, development or behavior); OR
  Facial findings and meet criteria for at least one major categories and two additional categories (major or minor)

      Facial Features
  Eyebrows that meet at the midline and > three or more of the following:
  Long eyelashes
  Short nose, anteverted nostrils
  Long, prominent area between upper lip and nose
  Broad or depressed nasal bridge
  Small or square chin
  Thin lips, downturned corners
  High palate
  Widely spaced or absent teeth

      Major Criteria
  Growth ( > two or more of the following)
  Weight below 5th percentile for age
  Height/length below 5th percentile for age
  Head circumference below 5th percentile for age
  Development ( > one or more of the following)
  Developmental delays or intellectual disability, with speech more affected than motor skills
  Learning disabilities
  Behavior ( > two or more of the following)
  Attention deficit disorder plus hyperactivity
  Obsessive-compulsive characteristics
  Anxiety
  Constant roaming
  Aggression
  Self-injurious behavior
  Extreme shyness or withdrawal
  Autistic-like features

      Minor Criteria
  Musculoskeletal (> one or more of the following)
  Absent arms or forearms
  Three or more of the following or small hands and feet and/or missing digits with two or more of the following:
  Curved 5th finger
  Abnormal palmar crease
  Dislocated elbow/abnormal elbow extension
  Short 1st knuckle/proximally placed thumb
  Bunion
  Partial webbing between 2nd and 3rd toes
  Scoliosis
  Chest or sternum deformity
  Hip dislocation or dysplasia
  Neurosensory/Skin (three or more of the following)
  Droopy eyelid(s)
  Tear duct malformation or inflammation of eyelid
  Nearsightedness
  Major eye malformation or peripapillary
  Deafness or hearing loss
  Seizures
  Mottled appearance to skin
  Excessive body hair
  Small nipples and/or belly button
  Other major systems (three or more of the following)
  Gastrointestinal malformation/malrotation
  Diaphragmatic hernia
  Gastroesophageal reflux
  Cleft palate or submucous cleft palate
  Congenital heart disease 
  Micropenis
  Abnormally placed opening of urethra on penis
  Undescended testes
  Renal or urinary tract malformation

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