Shprintzen-Goldberg Craniosynostosis Syndrome (SGCS) is an extremely rare connective tissue disorder that is usually characterized by a marfanoid habitus, with craniofacial, skeletal and cardiovascular abnormalities, and learning disabilities. The most frequently described craniofacial abnormalities in SGCS include dolichocephaly (abnormal head shape), a high, prominent forehead, ocular proptosis (bulging eyes), hypertelorism (wide spaced eyes), down slanting eyes, maxillary hypoplasia (small jaw), high narrow palate, and low-set ears. The main skeletal findings in SGCS are: arachnodactyly (long, thin fingers), flat feet, "bird" chest deformity, scoliosis (curvature of the spine), and loose joints.
Shprintzen-Goldberg Craniosynostosis Syndrome is caused by genetic mutations in SKI Proto-Oncogenegene (SKI). Mutations in fibrillin-1 gene (FBN1) have also been detected in patients with overlapping features of both SGCS and Marfan synfrome. Many researchers think that these mutations only predispose a person to SGCS, and other factors are required in addition to develop the disease.