Macrothrombocytopenia-lymphedema-developmental Delay-facial Dysmorphism-camptodactyly Syndrome

Description

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

Clinical Features

Top most frequent phenotypes and symptoms related to Macrothrombocytopenia-lymphedema-developmental Delay-facial Dysmorphism-camptodactyly Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Hypertelorism
  • Nystagmus

And another 79 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

Macrothrombocytopenia-lymphedema-developmental Delay-facial Dysmorphism-camptodactyly Syndrome Is also known as takenouchi-kosaki syndrome, macrothrombocytopenia and mental retardation 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.

Macrothrombocytopenia-lymphedema-developmental Delay-facial Dysmorphism-camptodactyly Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CDC42.

By Fulgent Genetics Fulgent Genetics (United States).

CDC42
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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