Signs and Symbols of Cornelia de Lange syndrome

The diagnosis is suspected when the following signs and symptoms are present in those who are affected by CdLS.

1) Growth failure (>95%): Growth failure that starts while the baby is growing inside the womb, resulting in a very low height and weight throughout life, and failure to thrive secondary to gastroesophageal reflux and other issues with feeding. You can also visit https://hopeforvihaan.org/ to get detailed information about CdLS and also make donations.

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2) Head and facial appearance (>95%): Very small and flat-head (microbrachycephaly), long and thick eyelashes, unibrow (synophrys) and very arched brow (in 98% of the cases), short nose with the upturned tip with nares that are easily seeing from the front (anteverted nares), low-set abnormally placed ears with a thick helix (curve of the outer ear), long space between the nose and the superior lip, thin downturned lips, high and arched palate with clefts (30% of the cases), very small jaw (micrognathia) in 80% of the cases, with spurs (42% of the cases), and short neck. 

3) Intellectual disability (>95%) Severe-to-profound developmental delay.

4) Excess of hair in the face, back, and arms (hirsutism) in more than 80% of the cases.

5) Limb abnormalities (>95%). Small or absent forearms and missing fingers in about 30% of the cases. Some people do not have limb deficiencies but have micromelia (small hands), abnormally placed thumbs, and abnormal curvature of the fifth finger (clinodactyly).  

A fusion of the bones of the forearm (radioulnar synostosis) is common and may result in a defect of the elbows. Small feet and joined toes (syndactyly) in more than 80% of the cases.

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