Orphanet: FBLN1 related developmental delay central nervous system anomaly syndactyly syndrome

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Disease definition

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 FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.

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

ORPHA:404451

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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