What is Shprintzen?
Definition. 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 .
Can amniocentesis detect Marfan syndrome?
Amniocentesis at about 16 to 18 weeks can also test for Marfan syndrome. This involves taking and examining a small sample of amniotic fluid (the fluid that surrounds the fetus in the womb). While these tests can show if your child has the gene defect, they can’t indicate how severe the condition will be.
What gene causes pectus excavatum?
TINAG mutation as a genetic cause of pectus excavatum.
What are the symptoms of Shprintzen-Goldberg syndrome?
People with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent ( camptodactyly) and an unusually large range of joint movement (hypermobility). People with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability.
Is Shprintzen-Goldberg syndrome a form of Marfan syndrome?
Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome than in the other two conditions.
How do I get an appointment to see a doctor for Shprintzen-Goldberg syndrome?
Shprintzen-Goldberg syndrome normally occurs in people with no history of the disorder in their family, but it can be inherited. To request an appointment with a physician at St. Louis Children’s Hospital, call 314.454.5437 or 800.678.5437 or email us .
What is the Orpha number for printzen Goldberg syndrome?
Orpha Number: 2462. Definition. 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.