Kabuki make-up syndrome with unilateral renal agenesis.

[kabuki syndrome]

Kabuki syndrome is a multiple congenital anomaly /mental retardation syndrome with a diagnosis that is dependent upon clinical findings . Recognition of this entity is based upon unique facial appearance , including long palpebral fissures with everted lower eyelids , arched eyebrows , fleshy-cup-shaped ears and trapezoid philtrum , postnatal growth retardation , and mild to moderate mental retardation . We here report a seven -year , seven -month -old male patient with Kabuki syndrome who also had agenesis of the left kidney . We draw attention to the frequency and diversity of urogenital anomalies in this syndrome .

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