Antoni’s illness

The genetic test results confirmed the diagnosis of Kabuki Syndrome in Antoni.

Below is a list of symptoms related to Kabuki Syndrome and thus far diagnosed in Antoni:

Antoś in the hospital.

– developmental delay (motor and cognitive)
– distinctive facial features and dermatoglyphic abnormalities
– high arched palate
– feeding difficulties (Antoni has gastrostomy in situ)

– hyperextensible joints
– hypotonia (low muscle tone)
– sacral dimple
– underdeveloped vetrtebrate T10
– loss of lordosis

– bilateral otitis media
– moderate conductive hearing loss
-early myopic astigmatism
– eczema
– factor XII deficiency (one of the blood coagulation factors)
– gastroesophageal reflux disease (GORD)
– enteropathy
– growth hormone deficiency
– hydronephrosis
– hypoglycaemia (low blood sugar level)
– hypospadias
– hypogammaglobulinemia
– patent foramen ovale (PFO)
– phimosis
– food allergies

Antoś is on wheat, dairy, egg and soy free diet.

Antoni has also certain conditions that could be, but are not necessarily part of his genetic problem:

– hypoplasia of corpus calossum
– low myelination of the white matter of his brain
– elongated cerebellum