Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis (involving the coronal, sagittal, or lambdoid sutures), distinctive craniofacial features, skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility, or contractures), neurologic abnormalities, mild-to-moderate intellectual disability, and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies (mitral valve prolapse, mitral regurgitation, and aortic regurgitation) may occur, but aortic root dilatation is most likely not found. Minimal subcutaneous fat, abdominal wall defects, cryptorchidism in males, and myopia are also characteristic findings.
The diagnosis of SGS is suspected in individuals with characteristic clinical findings and radiographic findings showing C1-C2 abnormality, wide anterior fontanel, thin ribs, 13 pairs of ribs, square-shaped vertebral bodies, and osteopenia. The gene in which SGS-causing mutations occur is unknown.
The mode of inheritance of SGS is unknown. Familial recurrences are rare. Germline mosaicism for a new autosomal dominant mutation, autosomal recessive inheritance, or a cryptic structural abnormality of a chromosome may explain familial recurrence with unaffected parents. The risk to sibs of a proband is small, but greater than that of the general population. To date, all offspring of individuals diagnosed with Shprintzen-Goldberg syndrome have been unaffected. Prenatal diagnosis is not possible at this time.