An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

[kabuki syndrome]

Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies , including short stature , peculiar facial appearance , skeletal anomalies , a variety of visceral malformations and abnormal dermatoglyphic patterns . We describe a case of Kabuki syndrome presenting with atypical features , consisting of bilateral microphthalmia , coloboma , anal atresia and panhypopituitarism , showing considerable phenotypic overlap with CHARGE syndrome . This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis .

Diseases
Validation

Diseases presenting "intellectual disability" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

aniridia

child syndrome

cohen syndrome

cowden syndrome

hirschsprung disease

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

monosomy 21

oculocutaneous albinism

oligodontia

phenylketonuria

proteus syndrome

triple a syndrome

wolf-hirschhorn syndrome

This symptom has already been validated