Signs and Symbols of Cornelia de Lange syndrome
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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.
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.
People with milder syndrome usually have many of the characteristic facial features but with less severe cognitive and upper extremities defects, and mild intellectual disability (intelligence is normal in some cases). A milder syndrome is more common in people with variants in the SMC3, RAD21, HDAC8, or SMC1A genes. One can also find different patients stories by visiting this website.
The diagnosis of CdLS is established with the presence of the clinical features and/or by the genetic test showing a variation in any of the genes associated with the syndrome. However, about 30% of the people affected by the syndrome do not have any known cause.