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.
Clinical Features
Top most frequent phenotypes and symptoms related to Craniolenticulosutural Dysplasia
- Short stature
- Scoliosis
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
- Cleft palate
- Cataract
- Cryptorchidism
- High palate
- Delayed speech and language development
And another 51 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Craniolenticulosutural Dysplasia Is also known as boyadjiev-jabs syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Craniolenticulosutural Dysplasia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Craniolenticulosutural dysplasia.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
SEC23A
Specificity
100 %
Genes
100 % |
SEC23A.
By Fulgent Genetics Fulgent Genetics (United States).
SEC23A
Specificity
100 %
Genes
100 % |
You can get up to -6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LUTHERAN NULL MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB HEMANGIOMA, CAPILLARY INFANTILE EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58