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 "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