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Takenouchi-Kosaki syndrome
rareAn autosomal dominant multisystem developmental disorder caused by heterozygous variants in the CDC42 gene, characterized by global developmental delay or intellectual disability, craniofacial dysmorphism, macrothrombocytopenia and congenital lymphedema. Additional manifestations include cardiac defects, hearing or vision abnormalities, immune dysregulation, lymphatic anomalies and structural brain malformations.
- Identifiers
- MONDO:0014757 OMIM:616737Orphanet:487796
- Causal genes
- CDC42
- Part of
- Congenital hematological disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic constitutional thrombocytopeniaSyndromic disease
- Also known as
- macrothrombocytopenia and mental retardation syndrome · macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome · TKS
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