Acronym for Say-Barber-Biesecker-Young-Simpson
(Say-Barber-Bisecker-Young-Simpson syndrome, BMRS type SBBYS, Young-Simpson syndrome, Ohdo-SBBYS syndrome)
Prevalence < 1/106. Autosomal recessive transmission of a mutation of the KAT6B gene (10q22.2) coding for a histone acetyltransferase. It is considered as a variant of the Ohdo syndrome and close to the genitopatellar syndrome.
Clinical presentation:
- hypotonia at birth with feeding difficulties
- congenital hypothyroidism
- agenesis of the corpus callosum and delay in myelination at MRI
- facial dysmorphy: microcephaly, prominent nose with bulb-shaped tip, blepharophimosis, micrognathia with thin upper lip, low set ears, immobile mask-like face
- congenital heart disease (50 %): VSD
- cryptorchidism
- contracture of some joints
- anomalies of the teeth: small and sharp
- difficulties of speech (deafness in 10 %) and development retardation
- sometimes cleft palate or bifid uvula
Anesthetic implications:
echocardiography; check the thyroid function; risk of difficult intubation/mask ventilation
References:
- Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J.
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.
Clin Genet 2008;74 :434-44.
Updated: February 2022