[MIM 601 353, 601 088]

(Fine-Lubinsky syndrome, brachycephaly-deafness-cataract-intellectual disability syndrome)

Prevalence unknown. Very rare. Autosomal dominant transmission of a mutation of the MAF gene (16q23.2). 

Association of :

-         congenital cataract, 

-         neurosensory hearing loss, 

-         developmental delay with varying degrees of intellectual disability, 

-         convulsions, 

-         short stature, 

-         brachycephaly 

-         facial dysmorphism: flattened face (sometimes resembling Down's syndrome, see this term), ptosis, short nasal tip, long philtrum, low-set, backward-facing ears and small mouth. 

-         sometimes: skeletal anomalies, nail dystrophy, mammary gland hypoplasia and autism-spectrum behavioral disorders.

Anesthetic implications: 

risk of difficult mask ventilation and intubation, deafness and visual impairment.

References : 

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Updated: August 2023