BOSTON -- Most people are familiar with Down syndrome and autism, but a rare genetic disorder that has features of both conditions is often misunderstood and undiagnosed.

NewsCenter 5's reported that one local family is reaching out, trying to spread awareness about Cornelia de Lange Syndrome, or CDLS.

Gregory Perrone, 14, loves music. He loves creating it, listening and dancing to it. Music calms the frustration and anxiety he often has with CDLS. The syndrome is named for one of the doctors who identified it. Perrone was diagnosed at 3 months old.

"It's not something you would think about during a pregnancy, certainly. After the baby was born, that's when you would find out," said Dr. Joan Stoler, of Massachusetts General Hospital.

CDLS is caused by a gene mutation and may occur in one out of every 10,000 live births, doctors said. There are telltale characteristics, including small hands and head; thin, arched eyebrows that meet in the middle; physical medical conditions and a general failure to thrive; autistic behavior and mild to moderate mental retardation.

Perrone is not able to talk. He uses a picture board and sign language to communicate. But many others have much milder forms of CDLS.

"A lot of children go undiagnosed and a lot of adults are living with it, and they don't know what they have. And it's sad, because they could have gotten services when they were younger," Cynthia Perrone said.

Perrone needs around-the-clock supervision at home. And while he's learning life skills at school, he'll never be able to live independently. His mother worries about his future.

"So that's what I really want for him to be: healthy, happy, and try do what he can for himself. That's what we're aiming for," Perrone said. "What he's capable of doing to reach his maximum potential."