Diagnosed in 2009
"Duplication 15q13.1"
http://www.chromodisorder.org

Signs & Symptoms

Head

- Microcephaly

Ears

- Thicker than normal ear canal

- Intermittent conductive hearing loss
 

Mouth

- Micrognathia

- High and large palate

Teeth

- Late erupting teeth, both baby and permanent

Upper Limb

- Hyperextenable fingers

Lower Limb

- Born with severe flat feet

Skeletal

- Neuromuscular scoliosis

Alimentary Tract

- Severe silent GERD
- Moderately delayed gastric emptying

Neurological Structural

- Arnold Chiari Malformation
- Smaller than normal corpus collosum

 

Neurological Functional

- Lack of normal physiological development
- Hypotonia CP
- Globally delayed with speech and fine motor skills affected most
- Autism
- Body temperature control problems

Feeding

- Failure to thrive as baby and toddler

 

Surgeries

- 2 Nissian fonduplications
- G-tube placement(no longer has)
- Pyloricplasty
- Adenoids and tonsils removed
- Liver biopsy
- 11 teeth removed
- Both feet arches created and both heel cord released

Illnesses

- 13 pneumonias
- RSV
- Upper airway resistant syndrome
- Sepsis, several times
- Near drowning
- Toxic reaction to infection
- Liver injury due to medications, healed by age 3
- 5th disease
- Cellulitis
- Numerous dehydrations

Contact: Deborah mom to Zachary at BrightIs7331@msn.com
Website: http://caringbridge.org/fl/zacharyt

Any troubles with e-mails send to swanusa@undiagnosed-usa.org