[MIM 226 750]

(amelo-cerebro-hypohydrotic syndrome)

Prevalence < 1/106. Autosomal recessive transmission of a mutation of the RODGI gene (16p13.3).  The Kohlschütter-Tönz like syndrome [MIM 619 229]  is associated with the autosomal dominant transmission of a mutation of the SATB1 gene (3p24.3). Early onset  (between 1 day and 4 years of age) epileptogenous encephalopathy associated with:

-        intellectual retardation and often mental regression with dementia: automutilation, aggressivity, agitation

-        developmental delay: delay or absence of speech, delay for walking

-        yellow-brown discolored teeth caused by abnormal enamel (amelogenesis imperfecta) and dental caries

-        frequent structural anomalies at MRI: cerebellous hypoplasia, ventriculomegaly, cortical atrophy

Anesthetic implications:

treatment-resistant, fragile teeth

References :

-        Akgün-Dogan O, Simsek-Kiper PO, Taskiran E, Schossig A, Utine GE et al.
Kohlschütter-Tönz syndrome with a novel ROGDI variant in 3 individuals: a rare clinical entity?
J Child Neurol 2021; 36:816-22 

-        Gowdaa VK, Bylappaa AY, Srinivasana VM, Manohara V, Pandey H.
Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.
Clinical Dysmorphology 2023 ; 32:168-71

Updated: November 2023