This website provides information on patients with mutations in the SMC5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SMC5 gene is a multisystem disorder characterized by microcephaly, short stature, developmental delay, learning difficulties, mild skeletal defects e.g. clinodactyly, skin hyperpigmentation e.g. café-au-lait spots, attention deficit disorder, hypotonia/hypertonia, recurrent infections, anaemia, ocular abnormalities e.g. hypermetropia, cardiac defects e.g. atrial or ventricular septal defects, dental abnormalities e.g. irregular or small teeth and hypothyroidism.

Not all individuals with a mutation in the SMC5 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SMC5 gene.

Grant Stewart, PhD, University of Birmingham, Birmingham, UK,

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