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 "short stature" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aromatase deficiency

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

dentinogenesis imperfecta

fabry disease

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

monosomy 21

oculocutaneous albinism

oligodontia

omenn syndrome

proteus syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated