What is Russell-Silver Syndrome?
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Angelo Santana scampers across the living room floor like any
other 2-year-old, except for one noticeable difference. He scoots
on his butt, not on his hands and knees, let alone on his own two
This is just one of many intriguing yet endearing peculiarities
of Angelo, who was born with Russell-Silver Syndrome, a very rare
and severe type of primordial dwarfism.
Angelo emerged into this world at 34 weeks, weighing just 2
pounds, 3 ounces, via emergency C-section at Rush University
Medical Center in Chicago.
"Essentially, he was just a head, along with some skin and
bones," explains his 23-year-old mother, Rita Santana, while Angelo
squeals in delight playing with his toys at their Aurora home. He
spent his first three months in the hospital.
Angelo struggles with developmental problems, a cleft palate,
severe constipation, poor hearing, dangerously high calcium, and
body asymmetry (his right side is shorter than his left). He must
be fed a concentrated high-calorie formula with a feeding tube
through a port in his chest, possibly for years to come.
"The first year of his life was such an emotional time for us
all," Santana says. "We had never heard of this condition, and his
doctors were also new to this rare syndrome."
Today, at a relatively whopping 12 pounds, Angelo still wears
clothes of a 3-month-old baby. He cannot speak except for sounds
and hand signs that only his mother can decipher, although he is
set to have surgery to repair his cleft palate.
Yet Angelo has big bright eyes, bigger ears, and the biggest
smile you could imagine for such a tiny human being. In public,
strangers turn into gapers, people ask a lot of questions, and
Angelo is a natural-born ham in front of any camera.
"Everywhere we go he makes people turn," Santana says. "I know
it's his little baby doll appearance, but he is always happy to
make new friends."
Angelo also has an infectious laugh, a contagious smile, and
enough energy to electrify a skyscraper.
"If he's not like this, we know something is wrong with him, so
we enjoy these moments," Santana says. "He is a typical toddler
with tantrums and all. Even worse, because he gets so frustrated he
cannot communicate or walk like others his age."
When Santana and her husband, Dionisio, first learned of
Angelo's diagnosis, they went in two different emotional
directions, a common reaction for new parents of children with
special needs. Dionisio was confused and somewhat in denial. Rita,
who is in school to obtain a nursing degree, was curious on how to
best deal with Russell-Silver Syndrome (RSS) and its many
She bought textbooks, learning more about this rare syndrome.
She found the world's largest organization dedicated to growth
abnormalities-the Oak Park-based MAGIC Foundation. And she attended
a convention in the Chicago area, where she met the nationally
renowned RSS specialist, Dr. Madeleine Harbison.
Harbison, a New York-based endocrinologist, confirmed with
Santana that her son has the "11p15 type" of RSS.
Santana wondered just how rare this type of RSS is, which occurs
roughly in one out of every 100,000 live births.
"A general pediatrician could practice for his whole life and
not see one child with RSS," Harbison says.
RSS is named in honor of two physicians in the 1950s who
independently described groups of small-for-gestational-age
Is the life expectancy of children with RSS much lower than for
other kids? Not if they get the care they need, Harbison says. Yet,
certainly, their daily activities can be affected because they are
so small, weak and frail.
"Generally, these children grow well on growth hormones," she
adds. "It remains to be seen how Angelo will grow because he is so
much smaller than the typical RSS child."
On a broader scale, RSS is being more appropriately diagnosed
these days at younger ages, thanks largely to the MAGIC Foundation
and the tireless work of its co-founder and chief executive
officer, Mary Andrews.
"We have only about 2,000 such cases nationwide of RSS in our
database," says Andrews, whose now-41-year-old son was born with a
form of dwarfism.
"Back then, pediatricians didn't know anything about this
issue," she says. "Today, my son is married with two kids."
More to the point, now he is 5-foot-7, she quickly notes.
Many RSS parents ask the same question as other new parents of
children with special needs: What are the chances for a normal
Experts insist the prospect for a normal life with a normal
adult height is closer than ever before.
Bobbi McGrath knows full well how Santana and other "RSS
mothers" feel with their youngsters. Fifteen years ago, the Chicago
area mother gave birth to her daughter, Kelly, a preemie who
weighed less than three pounds.
"After a few days in the NICU, when we unwrapped her, my husband
started comparing her feet and noticed a big difference in size,"
McGrath recalls. "The nurses gathered around and we all realized
Kelly's body was asymmetric. Her left side was significantly
smaller than her right side." (Roughly 50 percent of RSS children
The hospital's on-staff geneticist told the couple that Kelly
would be small in size and she would grow slowly, and would be
difficult to feed.
"We spent the next 10 months trying to feed her as often as
possible, even waking her up every night," McGrath says.
It worked. So did growth hormone therapy and, later, reflux
Through her adolescence, Kelly suffered several broken bones due
to low bone density. And she had to have limb-lengthening surgery
in eighth grade, a painful process that took several months to
"She still is recovering from the process and trying to regain
her strength to walk more normally," her mother says. "She spends a
lot of time at physical therapy."
She also takes several daily medicines to counter her symptoms,
including a prescription for high blood pressure.
Otherwise, Kelly pretty much can eat whatever she wants, and she
has developed as normally as other kids her age, both socially and
"She is accepted by her peers at school, too," McGrath says.
Kelly is looking forward to obtaining her driver's license,
enjoys different school clubs and likes to play volleyball, among
other competitive sports.
More noticeably, she stands 5-foot-4, head and shoulders above
the average untreated RSS girl, her mother proudly points out.
"We are very thankful for all the intervention that has helped
Kelly over the years," she adds. "Through the MAGIC Foundation, she
has made many RSS friends all over the country. She looks forward
to seeing them at the convention every summer."
This news will surely brighten the attitude of Santana, who now
will be a regular attendee of the convention. Her goal as a parent
is to instill hope in Angelo.
"He's different but he, too, can be accepted," she says. "I want
to teach him to accept himself for who he is, not what the world
thinks he is."
Santana then picks up Angelo and bounces him on her knee. He
shrieks in delight, his wide eyes darting to hers.
"Despite his size, he is capable of pretty much anything any
human can accomplish. He's my little man."
Jerry Davich is a Chicago area dad, author and freelance writer.
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