( ptosis-iridic coloboma-intellectual disability syndrome, cerebro-fronto-facial syndrome type 3)
Estimated prevalence at < 1 / 106. Autosomal dominant transmission or de novo mutation. Heterozygous mutation of gene ACTB (7p22-p12) for type 1 and of gene ACTG1 (17q25.3) for type 2. A later-onset phenotype called Fryns-Aftimos syndrome shares the same genetic origin. These genes code for different types of actin expressed mainly in non-muscular tissues.
- facial dysmorphism: hypertelorism with bilateral ptosis; wide and long, downslanting palpebral fissures; arched eyebrows; broad and bulbous nose (sometimes bifid); small, often anteriorly oriented ears. Ridged metopic suture. Moderate retrognathism. Slowly progressive microcephaly (50%). Facial features become coarser during late childhood and adolescence, with marked nasolabial folds.
- ocular coloboma
- progressive stiffness of the joints; progressive kyphosis and antepositioned shoulders
- variable intellectual deficit: brain MRI shows pachygyria and/or heterotopia in bands, sometimes lissencephaly; anomalies of the corpus callosum
- epilepsy (53%), sometimes severe
- sensorineural deafness
- arched palate; sometimes cleft lip or palate
- heart defect (33%): bicuspid aorta, mitral insufficiency, ASD, VSD
echocardiography, risk of difficult intubation, epilepsy
- Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA et al.
Baraitser-Winter syndrome cerebrofrontofacial syndrome : delineation of the spectrum of 42 cases.
Eur J Hum Genet 2015 ; 23 :292-301
Updated: January 2017