Features include always present findings: Lymphedema, Highly arched eyebrow, Progressive microcephaly, and Global developmental delay and others; and common findings: Ataxia, Patent ductus arteriosus, and Shrinkage of the cerebellum (cerebellar atrophy). 65 total HPO annotations.

CDC42 encodes cell division cycle 42 (191 aa). Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Highest expression in Cells EBV-transformed lymphocytes (227.0 TPM) and Cells Cultured fibroblasts (178.0 TPM).

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome is caused by mutations in the CDC42 gene on chromosome 1.

CDC42 is classified as a druggable target (Druggable Genome category) with score 17.4.

Genetic testing for CDC42 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome has been reported in the published literature.

Phenotype severity distribution: 15 always present features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome.

103 publications have been identified in PubMed for macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome. Research spans Review / Meta-Analysis (52%), Basic Science / Preclinical (18%), and Case Report / Case Series (12%).