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Jack Doyle, DOB 6/1/98

Diagnosis Found: Jack has been diagnosed with Cardio-Facio-Cutaneous syndrome. Features and Characteristics: Small height and weight Large head (95th percentile) Very curly hair - a bit sparse and soft High prominent forehead Flat nasal bridge Wide-spaced eyes, downward slanting, right epicanthal fold, left exotropia Low-set ears, rotated back Birthmark on nose - red blood vessels on tip of nose and under left nostril Wide-spaced nipples Herniated diaphragm Herniated belly button Ribs on right side bow outward (nothing shows on x-ray) Large hands Deep crease in hands Mild finger hyperextensibility Large big toe with small embedded nail 2nd toe sits on top of 1st and 3rd toe Undeveloped cortex (right side smaller) Cervical stenosis Undeveloped upper spinal cord Malformed lower spinal cord Scoliosis Kyphosis (41-45 degrees) - Joint block vertibra Mild pulmonic stenosis Undescended testicle Post natal growth deficiency Hypotonia Abnormal EEG Testing with negative results: Simpson-Golabi-Behmel syndrome Metabolic screening - urine organic acids Considered for Noonan syndrome or Costello syndrome, however he lacks some typical characteristics for both disorders

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