A Medical Mystery Revealed – a New Syndrome

07.31.17

“I was born almost like everyone else, but without knowing there was a small flaw in my genetics,” shared Daniel, 44. “At home, I was always treated as
a normal person, a child like everyone else. It was not until the fifth year in school that I began to be a victim of bullying. This was like a kind
of tunnel in my life, the years went by, and I even lost three years of high school because I did not know how to handle these emotions.”

Daniel grew up alongside his family in Honduras suffering with a variety of internal medical issues including headaches and digestive problems. But
it was the outward effects, including his unusual facial features that made life even more painful. Although he has dealt with the obvious effects
of his condition all his life, no one had been able to identify what was causing it. Throughout his struggles, support from his family, friends,
and faith helped him to persevere until they could find a solution.

Enter the Greenwood Genetic Center. Through the Center’s prior connection with medical professionals in Honduras, Daniel’s blood sample was sent to
GGC for microarray analysis, to help identify the cause of his condition.

A microarray test (CytoScan HD) allows scientists to scan millions of areas of the genomes at the same time, looking for missing or extra sections.
It is one of the first tests ordered on many patients and can be exceptionally helpful in unsolved cases like Daniel’s. Interestingly, Daniel’s
microarray results revealed a known deletion involving chromosome 7, a deletion that causes a defect called ectrodactyly or split hand/foot malformation.

Funny thing is, Daniel didn’t have ectrodactly.

Ectrodactyly interrupts the development of the hands and/or feet. This deficiency can result in the absence of one or more of the central digits, causing
them to take on a U or V shape. Sometimes digits which remain can be webbed.

Of the eight families known to have this particular deletion, only three individuals didn’t have ectrodactyly, or for that matter, any other physical
issues.

So why was Daniel so affected, and in such an unexpected way?

Although Daniel didn’t have ectrodactyly, he did exhibit many other symptoms including facial abnormalities, heart problems, a spine deformity, hernias,
and paranoid personality disorder. It was unprecedented for these symptoms to be present with this deletion, but without ectrodactyly. No one had ever
thought to look for such a deletion before.

Even though the origin of his symptoms had been discovered, Daniel’s condition still did not match anything on record. So, in order to better diagnose
patients in the future, a new name for this condition was created, Ramos–Martínez syndrome.

Though Daniel still faces struggles due to his disorder, his new knowledge that came with genetic testing has immensely improved his life. “Now I see a
little more clearly and know myself much better,” he says. “I have a vital strength; I like to walk a lot, observe life, and think that even though
I am not much different from what I was before starting the genetic test now I have a greater awareness of my life.”

Prior to his experience with GGC, Daniel poetically shared that he had “wandered like the people of Israel for 44 years … Like a gypsy, I went from
doctor to doctor” with no one being able to properly diagnose him. Despite his turmoil, Daniel remained remarkably hopeful. “It is possible to be happy;
even within my syndrome; happiness is you,” he wrote.

The Greenwood Genetic Center has made a profound impact in Honduras, a nation with few resources. For over a decade, the Center has been working in cooperation
with medical professionals in Honduras, providing expertise, genetic testing, medications, and education for health care providers and patients in
the impoverished nation. This relationship was started by Dr. Ken Holden, Senior Clinical Research Neurologist at GGC in Charleston, and continued
by Dr. Steve Skinner through years of medical mission trips.

Recently, GGC’s Director of Research, Dr. Charles Schwartz, was invited to lecture on intellectual disability and birth defects at a Honduran medical school. It was on that trip that he met Daniel, a patient previously only known
to GGC through a blood sample.

Addy Orcutt

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