[MIM 613 406]

(WITKOS)

Very rare. Autosomal dominant transmission or, more generally, sporadic onset of a mutation (deletion) of the SIN3A gene (15q24). The SIN3 protein plays an important role in the activation or inhibition of other genes (cell proliferation, organ development, ...).

Clinical presentation:

• mental retardation
• short stature and developmental delay
• facial dysmorphism: elongated face, protruding forehead, wide and flattened nasal base, long philtrum with a thin upper lip, retrognathism
• microcephaly with cerebral malformations
• eye abnormalities
• finger abnormalities

Anesthetic implications:

mental retardation, risk of difficult mask ventilation and  intubation (retrognathism)

References :

-        Ercoskun P, Kahraman CY.
Witteveen-Kolk syndrome: the first patient from Turkey.
Am J Med Genet A 2021 ; 185A : 617-9.

Updated: January 2021