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GTR Home > Conditions/Phenotypes > Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Synonyms
MACROTHROMBOCYTOPENIA AND MENTAL RETARDATION SYNDROME; Takenouchi-Kosaki syndrome

Summary

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). [from OMIM]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDC42Hs, G25K, TKS, CDC42
    Summary: cell division cycle 42

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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