Clinical Characteristics

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.