This website provides information on individuals with Turnpenny-Fry syndrome (TPFS, #618371) including clinical data, molecular data, management and research options.
Turnpenny-Fry syndrome is a rare developmental disorder caused by mutations in the PCGF2 gene.
The syndrome is a multisystem disorder characterized by developmental delay, intellectual disability, impaired growth, and a recognizable facial appearance. Facial features in affected individuals include prominent forehead, sparse hair, flat cheek bones, small eye fissures and mouth, and unusual 'satyr'-like ears. Common problems experienced by patients include feeding difficulties and constipation. Patients may be born with a range of brain, cardiac, vascular, and skeletal malformations. Some individuals have developed dilation of the aorta. Not all individuals with TPFS have these features.
This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of individuals with TPFS.
Peter Turnpenny, Royal Devon and Exeter NHS Foundation Trust, Exeter EX1 2ED, United Kingdom, firstname.lastname@example.org
Andrew Fry, Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, United Kingdom, email@example.com