Craniolenticulosutural dysplasia
Craniolenticulosutural dysplasia
Definition
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Also known as Boyadjiev-Jabs syndrome, craniolenticulosutural dysplasia — per MONDO