Preferred Label : Craniolenticulosutural dysplasia;
ICD-11 definition : Craniolenticulosutural dysplasia, 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.;
Origin ID : 970423180;
Automatic exact mappings (from CISMeF team)
Craniolenticulosutural dysplasia, 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.
