Shprintzen-Goldberg craniosynostosis syndrome

(redirected from Shprintzen-Goldberg Marfanoid syndrome)

Shprintzen-Goldberg craniosynostosis syndrome

An extemely rare (50 cases in the world literature) autosomal dominant condition (OMIM:182212) characterised by craniosynostosis (of the coronal, sagittal or lambdoid sutures), distinct craniofacies, skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility, or contractures), neurologic abnormalities, mild-to-moderate mental retardation, brain anomalies (hydrocephalus, dilation of lateral ventricles and Chiari 1 malformation), variable cardiac anomalies (mitral valve prolapse, mitral regurgitation, aortic regurgitation), reduced subcutaneous fat, abdominal wall defects, cryptorchidism and myopia.
 
Molecular pathology
Mutation of FBN1 on chromosome 15.q21.1.
Mentioned in ?