FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a <i> FLBN1 </i> gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.