Craniolenticulosutural dysplasia

Disease Export to PDF
Name:
Craniolenticulosutural dysplasia
Description:
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.
ORPHAcode:
50814
Synonyms:
Boyadjiev-Jabs syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14