The following is a list of characteristics observed in the Lupski research lab, mouse model lab and parent observations. Not all children present with the same symptoms (phenotypes), and the severity varies. If there is another chromosomal issue (such as CMT- Charcot-Marie-Tooth), the symptoms will vary. It has been noted that with maturity, and environmental surroundings, the children are seen to make wonderful developmental progress.

Physical Features:

  • Wide bridge of the nose- The space between the eyes, which will be wider with those who have the added CMT
  • Slender, anterior curve to the nose, which broadens as they age
  • Narrow/ pointy chin
  • Long fingers with a slight curve to the little finger
  • Excess hair on body (boys and girls)

Health Concerns:

  • Poor feeding- This is a sensory issue with infants and toddlers and is a great parental concern. Feeding issues tend to show resolution as the child ages.
  • “Failure to Thrive”- Babies are born with low birth weight and tend to remain on the low end of the growth curve, thus getting the diagnosis of “failure to thrive”.
  • Reduced body weight- The kids remain slender and low on the height/weight scale until the teen years, which is when some of them begin to put on extra pounds, while others remain very slender. We call it the “skinny gene!”
  • Low muscle tone- As infants they are seen as “floppy”. The low muscle tone continues, yet they tend to have strength. The older children are reporting they begin to have a “clicking” sound in their elbows and wrists.
  • Poor fine motor skills- Which can make it a challenge when they are learning to tie shoes or button a shirt.
  • Quiet during and after birth- Parents have reported little to no crying, as if they were sleeping or observing their surroundings
  • Hypersensitivity to light- This is known as photophobia
  • Eye Concerns- “Lazy eyes”, known as exotropia (of one or both eyes), failure to see in 3-D, and depth perception issues.
  • Hypersensitive to sound- Which makes it difficult for them to stay focused on the task at hand, and may contribute to their hyperactive behavior seen in some. The hearing needs to be monitored yearly, since it seems to diminish slightly as they reach young adulthood.
  • Scoliosis or Kyphosis- This is an “s” shape curve or an exaggerated hump to the upper back that is seen as they age.
  • Connective tissue disorder- This contributes to the weakening in the muscles, tendons, blood vessels, and other connective tissue that is seen in the early years and as they age.
  • Aortic root dilatation (the large artery coming off the heart)- The kids that have this, some are just monitored by the cardiologist, others are on beta blocker medications. The heart should be monitored every 1-5 years.
  • Cholesterol levels- HDL (good cholesterol) can be low, LDL (bad cholesterol) can be normal, and triglycerides can be high.
  • Sleep Apnea- Many children are mouth breathers, and have snoring. A sleep test can check for sleep apnea.
  • Dental issues- Malocclusions (misalignment of teeth), early eruption and loss of teeth, as well as poor formation or no formation of enamel have been noted.
  • High arched palate- The roof of the mouth is high, which can cause some concerns with speech.
  • Submucous cleft palate- The roof of the mouth does not completely come together when it forms, but the skin covers it, so it can not been seen, but can be felt by the doctor.
  • Oropharyngeal Dysphagia- Which means the mouth-throat area and swallowing difficulties. There can be a delay in swallowing of food.
  • Gastroparesis- Which means slow emptying of the food in the stomach
  • Poor coordinated movement of the tongue- Which can hinder formation of some sounds and words, as well as make for noisy eating as they move food around in the mouth.
  • Extra long intestinal tract- The large intestine has been seen to be extra long, which can cause constipation issues. Diet and stool softeners can help with this.
  • Acid reflux (GERD)
  • Kidney issues- Structural concerns have been noted.
  • Headaches/migraines- Unknown what causes them, but it could be from allergies, vision issues, sinus congestion, and with a smaller percentage of kids, Chiari Malformation (the brain sits lower in the skull.)
  • Sensory issues- Which can be seen as self stimulating and self soothing activities, food textures, and the textures of
  • Decreased sensation to pain, but increased sensation to light touch.
  • Chiari Malformation- Which is a condition when the brain sits lower in the skull, and has been seen in a small percentage.
  • Early puberty
  • Excessive sweating of feet and hands


  • Affectionate- Many love to hug. When they are injured, the kids can often be calmed by almost anyone.
  • They may need a reminder (to “cue”)- This is often needed to help them stay on task, and often used when they are in a conversation with others (to stay on subject being discussed)
  • Learning differences (they can be very literal)
  • Very social with familiar and non-familiar people
  • Happy, friendly children. Smiles all the time!
  • Speech delays
  • Developmental delays (when they have a growth spurt, it is big, then followed by a plateau)
  • Obsessive-Compulsive Disorder (OCD) behaviors (love to line up their toys, baby dolls, stuffed animals, shoes, etc)
  • Autism-like behaviors
  • Elevated levels of anxiety, especially in unfamiliar situations
  • Sensory Integration Disorders- In effort to cope with the information they receive about their surroundings, which may not accurate, or to block out sensory overload, they may do activities to calm their nerves. These activities (known as “stimming”) may range from flapping their hands, to rocking, spinning, humming, or lining up their toys.
  • ADD/ADHD (which tends to calm down greatly in late teen years)
  • Memory issues (long term memory is unbelievable. There is a deficit with short term memory)
  • I.Q. has a wide range (from average to med-low range)
  • Extreme passiveness
  • Delays in toilet training (often resolved around age 5-6)
  • Learn by imitating (they learn best by watching and interacting with “typical” kids, especially with speech)
  • They are excellent with electronics (cell phones, computers, iPads, itouches)
  • Often times are found carrying on conversations with themselves.
  • Many are found to be “sight readers” over “phonetic readers”
  • Very intuitive to emotions of others around them
  • Routine oriented- Our PTLS mouse model has shown that the children function better when put into a structured, calm, and routine oriented environment, with predictable outcomes. They are “rule followers” and this gives them structure and ability to focus.

Many of these children are extremely routine-oriented and organized. They function better when they have daily activity predictability and are allowed to direct their focus (“Stim”) on something they enjoy (like lining up toy cars or shoes,) so they are not over stimulated, similar to obsessive-compulsive behavior. This diminishes and is easier to alter as they reach adolescence and adulthood. These beautiful children may have speech delays, but they are excellent observers. They may not pay attention to what is said, but they understand what you are asking of them. They may not play with other children, but they will play next to them and watch the interaction. Love them and let them shine in their own remarkable way!

 Copyright 2009 Julie Smith-Centeno

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