Cornelia de Lange Syndrome (CdLS) Diagnostic Criteria Checklist
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| 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) |
| Gezichts kenmerken | |
|---|---|
| doorlopende Wenkbrauwen EN >3 van de volgende: | |
| Lange wimpers | |
| Korte neus, anteverted nostrils | |
| Lange, prominent area tussen bovenlip en neus | |
| Brede en depressed neus-brug | |
| Smalle of vierkante kin | |
| Dunne lippen, omlaagstaande hoeken | |
| Hoog (of gespleten) gehemelt | |
| Wijd uiteenstaande tanden of afwezige tanden |
| 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 |
