This website provides information on patients with mutations in the SRCAP gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SRCAP gene is a multisystem disorder known as Floating-Harbor syndrome. It is characterized by features including short stature, typical facial features and delayed bone age in early childhood. Learning difficulties, particularly delayed or limited speech (more so in expressive speech than receptive speech), and behavioural difficulties can also lead to significant morbidity.
Not all individuals with a mutation in the SRCAP 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 SRCAP gene.
Jane Hurst, MB.BS FRCP Clinical (Medical) Geneticist, Great Ormond Street Hospital, London, UK, firstname.lastname@example.org
Lara Menzies, MB BChir, PhD, Great Ormond Street Hospital, London, UK, email@example.com