Shprintzen Golberg craniosynostosis

An autosomal dominant disorder characterized by craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic FACIES involving HYPERTELORISM, downslanting palpebral fissures, high-arched palate, MICROGNATHIA, and low-set posteriorly rotated ears. Other commonly reported manifestations include MUSCLE HYPOTONIA, developmental delay, and inguinal or umbilical HERNIA; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. Mutations in the SKI gene have been identified. OMIM: 182212

Also Known As:

Networked: 17 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Tetrasomy
2.	Marfan Syndrome (Marfan's Syndrome)
3.	Loeys-Dietz Syndrome
4.	Ascending Aorta Aneurysm
5.	Arachnodactyly

Experts

1.	Almpani, Konstantinia: 1 article (10/2022)
2.	Curry, Natasha: 1 article (10/2022)
3.	Frischmeyer-Guerrerio, Pamela A: 1 article (10/2022)
4.	Jani, Priyam: 1 article (10/2022)
5.	Keyvanfar, Cyrus: 1 article (10/2022)
6.	Lee, Janice S: 1 article (10/2022)
7.	Liberton, Denise K: 1 article (10/2022)
8.	Mishra, Rashmi: 1 article (10/2022)
9.	Orzechowski, Pamela: 1 article (10/2022)
10.	Arun, Karegowda M: 1 article (12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Shprintzen Golberg craniosynostosis:

1.	Genetic Markers (Genetic Marker)IBA 09/01/2012 - "The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a phenocopy of Shprintzen-Goldberg syndrome. "
2.	Fibrillin-1IBA 01/01/1997 - "P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome." 12/15/2006 - "This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. " 07/01/1997 - "Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11." 02/01/1996 - "Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome." 01/01/1997 - "Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. "
3.	Transforming Growth Factor beta (TGF-beta)IBA 08/08/2019 - "BACKGROUND Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-dominant mutations in the SKI proto-oncogene, which is a component of the transforming growth factor beta (TGF-ß) signaling pathway. " 10/01/2022 - "Elevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). "
4.	Anesthetics (Anesthetic Agents)IBA 12/01/2010 - "Response to Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome." 08/01/2010 - "Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome."
5.	Transforming Growth Factor-beta Type II ReceptorIBA 04/01/2008 - "Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2." 12/01/2021 - "We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1/TGFBR2 (Loeys-Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen-Goldberg syndrome). "
6.	Transforming Growth Factor-beta Type I ReceptorIBA 11/01/2008 - "Furthermore, a TGFBR1 gene mutation was found in a Shprintzen-Goldberg syndrome patient. " 12/01/2021 - "We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1/TGFBR2 (Loeys-Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen-Goldberg syndrome). "
7.	Proline (L-Proline)FDA Link 11/01/1998 - "A missense mutation which changes a proline to alanine (P1148A) in cbEGF domain 13 has been associated with a number of fibrillin disorders including MFS and Shprintzen-Goldberg syndrome. "
8.	Alanine (L-Alanine)FDA Link 11/01/1998 - "A missense mutation which changes a proline to alanine (P1148A) in cbEGF domain 13 has been associated with a number of fibrillin disorders including MFS and Shprintzen-Goldberg syndrome. "
9.	FibrillinsIBA 11/01/1998 - "A missense mutation which changes a proline to alanine (P1148A) in cbEGF domain 13 has been associated with a number of fibrillin disorders including MFS and Shprintzen-Goldberg syndrome. "

Therapies and Procedures

1.	Pancreas Transplantation 10/01/2017 - "Pancreas Transplantation Is Feasible in Donors With Shprintzen-Goldberg Syndrome."
2.	Conduction Anesthesia (Regional Anesthesia) 04/01/2023 - "Regional Anesthesia in a Patient With Shprintzen-Goldberg Syndrome: A Case Report."