Genetic disorder CdLS brought into spotlight


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Cornelia de Lange Syndrome Foundation Inc.: www.cdlsusa.org

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A little-known genetic disorder was the focus of some health care professionals this past weekend as they aimed to educate the public about its effects.

Cornelia de Lange Syndrome is present from birth, but not always diagnosed right away, according to the CdLS Foundation, Inc.

It causes a range of physical, cognitive and medical challenges and affects both genders equally. CdLS also is seen in all races and ethnic backgrounds, CdLS Foundation officials said.

May 14 marks CdLS Awareness Day each year. It is a day when health care professionals take the opportunity to educate the public about the syndrome, which is named after Dutch pediatrician Dr. Cornelia de Lange.

CdLS is usually associated with fairly significant developmental problems, said Dr. Saal Howard, the director of clinical genetics at Cincinnati Children’s Hospital Medical Center.

“Most children who have this condition have cognitive impairment,” he said.

“These are kids that can be born with multiple birth defects including heart disease, cleft lip, cleft palate. Certainly, lemon anomalies are very common as well. They are at risk for multiple medical issues related to the underlying genetic disorder.”

Saal said the condition also affects adults.

“There is some variation in how severely people are affected, but most people who have classic Cornelia de Lange Syndrome are pretty significantly affected,” he said.

Saal said the condition is so “rare” that Cincinnati Children’s Hospital Medical Center probably sees one to two patients a year with CdLS.

“We don’t see too many patients with that, but if they’re out there we will see them here if they’re local,” he said.

The occurrence of CdLS is estimated to be 1 in 10,000 live births, CdLS Foundation officials said.

Usually, it is identified through clinical presentation or the individuals look at birth, he said.

“There’s distinctive facial features. The can be lemon anomalies and other birth defects as well. Very often children will have a significant facial appearance that’s consistent in most patients,” he said.

For example, Saal said individuals with CdLS syndrome tend to be small at birth, have a small face and more hair on the face, forehead and body, eyebrows are fairly distinctive or arched and meet in the middle, and mouths and jaws are small.

He said the characteristics are distinctive enough in appearance at birth that often they lead to consultation with a genetics doctor for evaluation and diagnosis.

“You treat the signs and symptoms primarily. There is no specific cure for Cornelia de Lange Syndrome. What we do is we treat the children individually as their needs are. If they have a cleft palate, we treat that, and if they have a heart defect, we treat that, We work with them with their lemon anomalies to get them some use of their limbs,” Saal said.

The hospital also enrolled these patients in early intervention services with Hamilton County and it emphasizes things like speech, physical and occupational therapy, he said.

Contact this reporter at (513) 483-5219 or dewilson@coxohio.com.

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