Antoni’s diagnoses

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

Below is non-exhaustive 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

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

– bilateral otitis media
– hearing loss
– dysarthria (difficult or unclear articulation of speech)
– 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
– atrial septal defect (ASD)
– phimosis
– insomnia
– food allergies

Antoś is on dairy 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