Craniolenticulosutural dysplasia

Orpha code: 50814OMIM code: 607812

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.

Disease data
Classification

Malformation syndrome

Synonyms
Boyadjiev-Jabs syndrome
Zespół Boyadjiev i Jabsa
ORPHA code
50814
OMIM code
607812
ICD10 code
Q75.8
ICD11 code
-

No additional description.

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