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:
Craniosynostosis and Marfanoid disorder, type 1; Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid Disorder With Craniosynostosis, Type I; Marfanoid craniosynostosis syndrome; Marfanoid-Craniosynostosis Syndrome; Shprintzen Golberg craniosynostosis syndrome; Shprintzen-Goldberg Craniosynostosis Syndrome; Shprintzen-Goldberg Syndrome
Networked: 17
relevant articles (0 outcomes,
1 trials/studies)
Disease Context: Research Results
Related Diseases
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:
Therapies and Procedures