CEDAR FALLS - Troy Wilson wasn't even a year old when his parents and doctor began noticing the little boy was missing the mark with some of his developmental milestones.

Wilson, now 9, had always been small for his size, but it wasn't until he began lagging behind other babies his age that his parents, Jamie and Nikki, began to really worry. But his doctor could not pinpoint the culprit.

It wasn't until Nikki was in the hospital delivering Troy's younger sister Kayla that the cause of his delays was discovered.

"I had brought Troy to the hospital to see Kayla, and another doctor passing us in the hallway diagnosed him on sight," Jamie said.

Troy's small stature was the doctor's first clue. The second was his arching eyebrows that grew closer together than most young children's. Troy had Cornelia de Lange Syndrome.

The syndrome was discovered in 1933 by Cornelia de Lange, but it is still not widely known about or understood in most medical circles, said Marie Malloy, director of public affairs for the CdLS USA Foundation. The syndrome is caused by a genetic mutation - at least three genes have been identified - that happens in the days following conception. Parents who do not have the syndrome can still have children who do. And because so little is known about the syndrome, there is the potential for people with only mild symptoms to go undiagnosed and have children of their own. There is about a 50 percent chance for those children to be diagnosed with the syndrome.

Children with CdLS often have many of the same features including small hands and head, thin eyebrows that meet at the midline, small upturned noses and downturned lips.

Troy is one of the lucky ones. He is relatively healthy and communicates well enough to attend North Cedar Elementary School. About 25 percent of children born with CdLS are missing limbs. Mental development is stalled in many of these children at about the age of 1 or 2, Malloy said. Troy's speech is only that of a 4- or 5-year-old, but watching him play outside his Cedar Falls home one might never suspect there is anything wrong. He loves to ride his bike and draw on the sidewalk with his younger sister.

Troy's attention span is short, except when it comes to trucks. He loves sitting in his father's truck or taking the wheels off his toy trucks.

"That's where we are fortunate. We've seen the other extreme," Jamie said.

May 12 has been designated CdLS awareness day. The Wilsons and officials with the CdLS organization said their goals are to educate others about special needs children and to bring awareness to the medical community about this diagnosis.

Everyone agrees that education is key when it comes to diagnosing and raising a child with any special needs.

"The best thing I can say to other parents is 'Inform yourself,'" Nikki said. "The first thing they said to me was 'Don't go to the Web site.' But, you have to be informed. You have to look at all your available options."

Jamie admits the diagnosis scared him at first.

"Then you realize it's not the end of the world, and you begin to educate yourself," he said. "And then you raise them and love them the same way you would any other kid."

For more information about CdLS, log onto www.cdlsusa.org.

Contact Emily Christensen at (319) 291-1520 or emily.christensen@wcfcourier.com.