Wednesday, January 18, 2017

What Exactly is Rhombencephalosynapsis?

Over the past few years this blog has taken on many different roles. Sometimes it is informational, and other times funny. We have shed a tear or two here and have hopefully provided some good information for new Rhombencephalosynapsis families. I am going to head back to the informational side for a few posts and try to break down the diagnosis in laymens terms, but without cutting the important medical information. When Abby was first diagnosed I was so completely overwhelmed by all of the medical jargon but little did I know that it was critical that I get familiar with this information. Over the past two years I have served as the expert in the room on RS even when five doctors are present.

What is Rhombencephalosynapsis?

Rhombencephalosynapsis is a brain malformation where the cerebellum is fused at the midline, rather  than being a separated structure. The severity of the diagnosis is like that of a curve. There are people living with Rhombencephalosynapsis who have almost no symptoms of the diagnosis. There are others who suffer from very severe cases of RS, often paired with other genetic and medical anomalies. These families may live with wheelchairs, feeding tubes and resporators as a part of their day-to-day routine.

In the most recently published study on Rhombencephalosynapsis, Dr. Doherty and his staff at the University of Washington noted that individuals outcome can be correlated with the degree of malformation in the brain. Meaning children that have a fused cerebellum but have a vermis will have better outcomes than children who have no vermis, other structural abnormalities and additional genetic issues. This being said Abby was born with RS, hydrocephalus, enlarged 3rd and 4th ventricles, a chiari malformation and partial agenesis of the corpus callosum. When they told us she would never walk or talk that seemed a very real possibility. However, kids with RS are also born with an amazing ability to overcome.  

How is Rhombencephalosynapsis Diagnosed?

An increasing number of children are receiving their diagnosis in utero. In some cases when the standard anatomy ultrasound is conducted, the malformation can be detected. In many cases (like ours) the medical professionals picked up on a non-specific issue with midline areas of the brain, but no specific diagnosis. In cases such as these, an MRI will detect the malformation. Abby underwent a CT scan and 1.5 tesla MRI before doctors at CHOP moved on to a higher resolution 3 tesla MRI, which finally uncovered her specific diagnosis. There are people in the RS community who were diagnosed much later in life. 

What are the major implications of Rhombencephalosynapsis?

Delayed Milestones:

Most children with Rhombencephalosynapsis miss milestones from the very beginning of life. They are slow to hold up their head, roll over, sit up, crawl and walk. It is not unusual for RS kids to be delayed in walking for up to 2-3 years. Abby had a particularly hard time learning to roll over. She passed other developmental milestones before she could roll over. Most kids will eventually meet their milestones. 

Impaired Fine Motor Skills:

One of the most globally experienced symptoms of Rhombencephalosynapsis is weak fine motor skills. Things like using zippers, typing shoes, holding a pencil, writing and other hand-based skills are well behind similarly age peers. It is very helpful for a family to seek the services of an occupational therapist early to help mediate these issues. 

Impaired Gross Motor Skills:

Like fine motor delays, kids with Rhombencephalosynapsis tend to also experience delays and difficulty in their gross motor skills. These would be things as basic as walking, balancing, running, standing on one foot and playing sports. In this area, a physical therapist can help strengthen muscles, develop tone and improve balance. 

Impaired Balance:

Often leading to falls and bumps is impaired balance. Kids with Rhombencephalosynapsis will often topple over, fall, trip or lose their balance. As a parent watching your child fall more than the average toddler can be painful. Many Rhombencephalosynapsis families choose to use walkers, helmets and other devices to help keep kids safe. We installed "Care Rails" on our steps to make sure maneuvering stairs was a safe activity for Abby. Along with impaired balance, many kids with Rhombencephalosynapsis lack what is known as protective reflexes. This would be something like raising your hands to break a fall instinctively. 

Low Muscle Tone:

A lack of good muscle tone is also very common in cases of Rhombencephalosynapsis. Working with a physical therapist can help improve muscle mass, which will help mitigate the symptoms of low muscle tone. 


A great number of children with Rhombencephalosynapsis experience the symptoms of strabismus, which is crossing of the eyes. This diagnosis is generally made by an ophthalmologist. The most common treatments include patching, glasses and surgery. We chose to have Abby eyes surgically repaired and her results were very good. 

Sensory System Issues:

Many parents of kids with Rhombencephalosynapsis report that they experience a range of sensory system disruption. Abby was diagnosed with Sensory Processing Disorder very early in life. She then worked with an occupational therapist to develop what is referred to as a "sensory diet." What this means is that when a child has sensory information enter their system (what they see, smell, hear, feel and taste) they have a difficult time organizing this information and making good use of it. 

Social and Behavioral Issues:

Kids with Rhombencephalosynapsis commonly struggle with some form of social or behavioral difficulty. Some kids experience severe issues, while others are very minimal. In Abby's case she often lacks the filter to know not to say things. She can be insensitive, lack empathy and come across as difficult. She struggles in school to follow the rules on some occasions. As she is maturing, we are seeing this less and less. The height of her behavioral troubles was between 3 and 4 years of age.

Additional Signs and Symptoms:

Alopecia, My goal is to write a series of articles that covers each of these topics in greater detail. While I can only write from our experiences and perspective I welcome fellow RS families to give input through comments and I will happily add that information.


  1. Hi All
    My name is Joanne and I have a 13 year old son with Rhombencephalosynapsis. Because my story is 13 years old I would be more than happy to share my experiences and let you all know what we all have in common. When I first started looking for answers back then, there was nothing, it wasn't even referred to as RS, we here in Australia have a very different term for that. What I did find scared the hell out of me and I just stopped researching and focused on Harry. I am off to see a Brain Lecture with a specialist in brain structure and genetic malformations, and this prompted me to to google the old 22 letter word that took me 3 years to learn to spell.
    To set the current picture for you......
    We live in Brisbane Australia, and Harrison attends High School in the year he is supposed to be in. His current workable diagnosis is ASD-Austism Spectrum Disorder- PDD-NOS- Pervasive Developmental Disorder Not otherwise Specified, and throw in a smattering of ADHD.
    As you know if you are too rare you need to fit somewhere so here we are. What I have learned over the years is they are all just a little bit different from each other. A lot of symptoms and defects or as I call them wobbly parts are very similar.
    Early dogged intervention got my boy to where he is today.
    Doctors are not all equal, as Special needs mum's, dad's and carer's we are our child's specialists. We know them best.
    So the short of it is, he had his first MRI at nearly 2 after I persisted, because his Specialists Pediatrician told me boys develop slower than girls!!! His Neurologist said, he will never walk or talk and don't expect him to win any races. We don't know how he will live, he is going to need around the clock care. For those of you out there who are new to this, we are constantly proving these "professionals" wrong.

    At 13 he has achieved teaching himself to read at the age of 4, he starting walking and speaking at 3!
    He started school on the day he was meant to, and has achieved grades higher than the stars.
    He completed his level 5 Piano studies all with honors at the ripe old age of 10, most kids get there by 18.
    He writes code in his spare time and loves reading.
    He swims, and as he hypotonic has just achieved 25 m, he even surprised himself. He runs the school cross country every year, Harry style.
    He has lots of friends, mostly nerds but the girls love him. He funny and witty and looks at life from the other side around the corner and teachers love it.
    Harry is the eldest of three boys, the other two are considered "normal" sorry neurotypical. Sometimes I wonder!
    Generally he is a great kid, and after 13 years and probably while he is in school he is light on maintenance. He list of struggles are long, but that is for another night. He is in my eyes always going to need help. I will just give you guys the shiny bits tonight, but in saying that the ugly bits give you the victories.
    As you all know just when we get comfortable they go and change the goal posts, sleep is very overrated.
    Harry will love to answer any questions if you have some.
    Always the annoying optimist.
    Jo and Harry xx

    1. Hello Joanne and Harry!
      My name is Stephanie. My son is 4 months old and has been diagnosed with RS pretty early on actually at my 16 week scan.. I just wanted to say thank u for sharing ur story! U don’t know how much hope u instilled in me by just me reading this! I felt so lost and only because his “Dr’s’ dont even know what to tell me.. it’s always just lets follow up follow up follow up. I know we still can’t determine whether his RS condition will have any effect on him because he still is little. And I’m still learning and trying to research what I do know.. but like u said most of it just scares me! I cry A LOT! Lol! And I know I have a long journey ahead for the both of us. But with the grace of God and wonderful ppl like urself sharing ur story, I don’t feel so alone now! THANK U AGAIN! I hope u get to read this and would like to talk more about my son and hear about yours.
      Signed a parent with hope,
      Stephanie and Jose aka JOJO

  2. Oh wow as I read this it all relates back to everything going one with my own child. My daughter is 5 almost 6 and has just been dx with RS. I would really love to connect with you on fb being that this seems to be such a rare condition.

    Fallon Gaspard

  3. I have a 2 year old son with RS. Balance issues, late to walk, severe strabismus (2 surgeries), trouble with head control, and late protective reflexes. Also alopecia and very small for his age. We have been fortunate to have good OT/PT services from a young age. Nice to hear about older kids and how this translates over to everyday life.


  4. My son is 3 years old he has hydrocephalus and also rhomboencephalosynapsis we struggle day to day with his behavior. Also he has balance issues. Also failing to thrive he eats so much and my 1 year old daughter weighs just under 5 pounds than him. I would really like to get in contact with some moms that deal with this on a day to day basis. You can contact me at.

  5. Melissa Baker-GibsonMay 4, 2018 at 10:16 AM

    My name is Melissa Baker-gibson
    My granddaughter was born yesterday 4/3/2118 with RS. And she was born 7 weeks early .
    We found out last night her esophagus is not connected to her stomach it's fused to her windpipe.
    They will b doing surgery this afternoon to try and correct it .but I would like to know what are the chances in any sort of life with this . Is it a prolonged death or how many children with this are able to survive ? Just the part of her brain missing with her we don't know if it will tell her to move or eat . Just wanting to know what to except.

    1. Hi Melissa
      My Daughter was born with TEF/EA as well and just recently diagnosed with RS. She is bright, beautiful and we have little to no issues with the TEF/EA at 2.5yrs old.

  6. Hi we have not long found out our son has rs,he is nearly has been a slow progress and been told he might never walk or talk etc its hard.he can walk around everything and walk holding ur hands but he cant communicate,we havent seen much info on the rs and worried sick about the outcome and how to help him.we are getting help from alot of folk but dont feel we are getting anywhere.