The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising 
craniosynostosis, a marfanoid habitus and skeletal, neurological, 
cardiovascular, and connective-tissue anomalies. There are no pathognomonic 
signs of SGS and diagnosis depends on recognition of a characteristic 
combination of anomalies. Here, we describe 14 persons with SGS and compare 
their clinical findings with those of 23 previously reported individuals, 
including two families with more than one affected individual. Our analysis 
suggests that there is a characteristic facial appearance, with more than two 
thirds of all individuals having hypertelorism, down-slanting palpebral 
fissures, a high-arched palate, micrognathia, and apparently low-set and 
posteriorly rotated ears. Other commonly reported manifestations include 
hypotonia in at least the neonatal period, developmental delay, and inguinal or 
umbilical hernia. The degree of reported intellectual impairment ranges from 
mild to severe. The most common skeletal manifestations in SGS were 
arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint 
hypermobility. None of the skeletal signs alone is specific for SGS. Our study 
includes 14 mainly German individuals with SGS evaluated over a period of 10 
years. Given that only 23 other persons with SGS have been reported to date 
worldwide, we suggest that SGS may be more common than previously assumed.