Diagnosed in 2007
Kabuki syndrome

Journey to a diagnosis
       We recently went to the National Institute of Health to participate in a genome study for Bardet-Beidle Syndrome(Conner's given diagnosis 2006). However the doctors there almost from the first day doubted this diagnosis was correct. They have been following a group of BBS patients' for 3 yrs now and Conner did not fit the syndrome manifestations as they had seen them. They did however make up a case file for Conner and sent it out to several different Geneticists at other Hospitals and received an immediate response. They called us back by phone 1 week after we left and told us they were 99% sure they had a correct diagnosis for  Conner. The syndrome is called Kabuki syndrome and Conner fits it to the tee. I think they have found it! So for now that is his official diagnosis.  

Features & Characteristics

- Micrognathia
- Flattened facial features with a wide bridged nose
- lachrymal dilatation (tear duct) surgeries
- He has had almost chronic Otitis Media with hearing loss and perforated eardrums due to fluid build up and had tubes placed 7/04 but is still experiencing hearing loss
- Several set of PE tubes.
- high arched palate
- He has a very high pitched voice and does a lot of screaming when he is excited or frustrated
- He also has a sacral dimple
Upper Limb
- (Clinodactyly) distal 5th fingers are starting to turn inward
Lower Limb
- Shortened 2nd toe on both feet
Alimentary Tract
- Pharynx is there but not forming correctly
Urinary Tract / Renal Function
- He has had a Lt sided partial Nephrectomy Due to an obstructed Duplicated Lt upper renal pole, and Drs are still watching the Rt kidney which is most likely the same scenario
- Rt sided Aortic Arch (Cardiovascular defect)
Neurological Functional
- Hypotonic
- Hyperactive
- Delayed motor development and Speech
- Conner does not eat well and drinks Pediasure supplements 3x daily to keep his weight up, and still spits up a lot witch I attributed to reflux, however a UGI Barrium swallow was negative for this.
- Very social
- He sleeps often with his eyes open
Laboratory Test and Findings
- Thyroid Study (negative)
- Lead Screening (negative)
- Williams Syndrome (negative)
- High Definition Chromosomal Study (normal)

Contact: Gina mom to Conner at

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