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 "fleshy-cup-shaped ears and trapezoid philtrum" symptom

kabuki syndrome

You can validate or delete this automatically detected symptom