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 "rare genetic disorder" symptom

aniridia

aromatase deficiency

cohen syndrome

congenital adrenal hyperplasia

cushing syndrome

fabry disease

familial hypocalciuric hypercalcemia

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kindler syndrome

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

oculocutaneous albinism

oligodontia

papillon-lefèvre syndrome

proteus syndrome

triple a syndrome

werner syndrome

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