Signs & Symptoms
Build / Stature
- Preemie at 35 weeks - Birth-5 pounds 13 oz 19” long
- Small for age (32 pounds 38inches at 6 years old)
- Floppy baby with hypotonia in upper trunk
- Hydrocephalus
- Head has triangular shape (wide in the back and narrow in the front)
- Frontal Bossing of forehead
- Midface hypoplasia
- Small pointed ears (described as elfin ears)
- Small ear canals
- Downslanting palpebral fissures
- Bilateral Ptosis
- Epicanthel folds in corners of eyes
- Strabismus
- Farsighted
- Upturned nose w/ bulbous tip
- Wide low set nasal bridge
- Slight mandibular prognathism (slight projection of the lower jaw)
- Long philtrum
- Thin upper lip

- His teeth were late to erupt and did not come in order and they have been early to fall out and not come in quickly at all.
- Recently started having skin issues such  as small pimply rash described as keratosis.
- Multiple hair whorls and curly sparse hair very fine.
- Widely spaced inverted nipples
- Very Mild pectus excavatum
Upper Limb
- He has hyper extended thumbs and long tapered fingers that turn in slightly (especially his index fingers)
Lower Limb
- His feet are long and thin and his second and fourth toes are overlapping the ones next to them, he also has a wide space between the big toe and the second toe.
Alimentary Tract
- Heart murmur
- Had previous Cardiomyopathy
- Pulmonary valve stenosis repaired in Aug. 04
- PDA (patent ductus arteriosus) (repaired in May of 03)
Neurological Functional
- Possible ADHD
- Sensory integration issues, tactile defensiveness especially feet
- Developmental delay he is six but acts as though he is four or younger at times cognitively and sat at 10 moths, crawled at 15 months, walked at 27 1/2 months
- Speech/Language delay (especially expressive language, can be difficult to understand him especially if you are not familiar with him) and lately he's been stuttering (atypical stutter more like stuck on what he wants to say so he repeats the same thing over and over till he remembers)
- Gross motor delays
- Fine motor delays (cannot write and has poor pre writing skills)
- Clumsy-poor with coordination,  walks like he's drunk
- Poor suck/swallow as a baby, poor appetite 
- Poor weight gain even now he is below the 3rd percentile but kept a steady growth curve
- Low muscle tone orally
- Severe gag reflex
- Very picky eater
- Tactile defensiveness
Behavior / Social
- Overly friendly
Loving child
 Short attention span
 Overly sensitive
 Obsessive behaviors and gets "stuck" on issues that he needs to know about (like what our plans are for the day or the next day, who is visiting etc.)
 Attention Seeking behaviors
- Drools a lot
- Bruises easily
- Decreased sensitivity to pain
- Still Potty training)
- TIPTOE walking (wears smo ankle support orthotics for weak arch muscle in feet)
- Constipation almost all the time
- when concentrating on something his tongue protrudes and he drools
Laboratory Test and Findings
- Normal 46 XY karotype
- Tested for metabolic disorders and all findings were normal
- Downs syndromre -- normal
- Williams Syndrome -- FISH -- normal
- Pradar willi - normal
- Pompeii disease - normal
- Glycogen storage disorders - normal
- Smith Magenis -- normal
- Angelman Syndrome -- normal
- Noonan Syndrome -- (done twice) normal
- G/bbb syndrome - normal
- Cardio facio cutenous syndrome (CFC) - normal
- Subtelelomere FISH -- normal
- Abnormality in the vein of galen  on MRI but not significant according to neurosurgeon
- Abdominal ultrasound -- fused kidneys that are anterior and to the right
- Muscle biopsy - normal (but intercostal muscle biopsy showed elevated glycogen but genetics dismissed as no data on intercostal muscle to compare to)
- Skin biopsy sent for FISH micro array - normal
- Liver biopsy - normal but he had hepatomegaly for the first two years of life with no underlying issues

His geneticist wants to check for connective tissue disorders next.

Contact: Colette mom to Nico

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