Webb-dattani Syndrome; Wedas

Description

Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).

Clinical Features

Top most frequent phenotypes and symptoms related to Webb-dattani Syndrome; Wedas

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cryptorchidism
  • Spasticity
  • Hypoplasia of the corpus callosum
  • Blindness
  • Prominent forehead
  • Hypothyroidism

And another 17 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

Webb-dattani Syndrome; Wedas Is also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies.

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.

Webb-dattani Syndrome; Wedas Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Webb-Dattani syndrome.

By Centogene AG - the Rare Disease Company (Germany).

ARNT2
Specificity
100 %
Genes
100 %
ARNT2.

By Fulgent Genetics Fulgent Genetics (United States).

ARNT2
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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