2022年8月23日 · Shprintzen-Goldberg syndrome, also called marfanoid-craniosynostosis syndrome, is a rare genetic disorder that affects several body parts. The condition may cause abnormal skull and facial features, skeletal abnormalities and intellectual disability.

Shprintzen-Goldberg syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

2006年1月13日 · Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum ...

2024年2月5日 · Shprintzen Goldberg syndrome (SGS) is an extremely rare connective tissue disorder characterized by craniofacial differences as well as skeletal and cardiovascular deformities.

Shprintzen–Goldberg syndrome is a congenital multiple-anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features.

Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities. A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones.

Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability.

Goldberg–Shprintzen syndrome is a very rare connective tissue condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filaments.

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

Shprintzen-Goldberg Syndrome is a connective tissue disorder caused by mutations in the SKI gene. Learn about the signs and symptoms here!