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.

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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 more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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