Esotropia in Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome is a mental retardation -malformation syndrome affecting multiple organ systems . The typical facies resembles the make-up worn in Japanese Kabuki theater . Although there are several clinical findings , the ocular findings affecting vision have been underreported . The current patient shows esotropia and previously unreported nummular corneal opacities .

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated