Lower lip pits: van der woude or kabuki syndrome?

[kabuki syndrome]

Kabuki syndrome (KS ) is a multiple congenital anomaly /mental retardation syndrome with characteristic facial features . Despite more than 350 documented cases and recent correlation of MLL 2 mutations as a genetic cause , its full clinical spectrum is still being defined . This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS ) based on the presence of lower lip pits . However , this finding can occur with KS , albeit infrequently . For patients with lower lip pits , a thorough evaluation should be made to distinguish between VWS and KS , as there are differences in long -term prognosis .

Diseases
Validation

Diseases presenting "characteristic facial features" symptom

cohen syndrome

kabuki syndrome

monosomy 21

neuralgic amyotrophy

wolf-hirschhorn syndrome

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