Autozomálně dominantní
Caused by loss-of-function changes in one copy of SMAD6, which normally restrains BMP signalling in bone and heart development. Penetrance is incomplete: many people who inherit a change are unaffected.
Příznaky a projevy
A key feature is early fusion of the midline skull sutures (sagittal or metopic craniosynostosis), causing an unusual head shape in infancy. Some people have congenital heart defects, such as a bicuspid aortic valve or left ventricular obstruction. Some people also have fusion of the forearm bones (radioulnar synostosis).
Co se diagnózou změní
Assessment of head shape in infancy, with surgery for craniosynostosis when needed, and heart imaging to look for valve or aortic problems. Because many carriers are unaffected, genetic counselling is important, and testing of relatives may guide heart and skull screening.
Analyzované geny
Známé také jako
SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- aortic valve disease 2
- craniosynostosis 7
- radioulnar synostosis, nonsyndromic, susceptibility to
