Type 2 Craniosynostosis

hereditary autosomal dominant disorder associated with mutations in the MSX2 gene; OMIM: 604757

Also Known As:

Craniosynostosis, Type 2; Craniosynostosis, Boston-Type; Warman Mulliken Hayward syndrome

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

1.	Acrocephalosyndactylia (Apert Syndrome)

1.	Bonaventure, Jacky: 1 article (01/2003)
2.	El Ghouzzi, Vincent: 1 article (01/2003)

Drugs and Important Biological Agents (IBA) related to Type 2 Craniosynostosis:

1.	Transcription Factors (Transcription Factor)IBA 01/29/2003 - "By contrast,Saethre-Chotzen syndrome and craniosynostosis (Boston-type) arise from mutations in the Twist and muscle segment homeobox 2 (MSX2) transcription factors, respectively. "
2.	Proline (L-Proline)FDA Link 07/01/1997 - "We demonstrated previously that individuals affected with an autosomal dominant disorder of skull morphogenesis (craniosynostosis, Boston type) bear a mutated form of Msx2 in which a histidine is substituted for a highly conserved proline in position 7 of the N-terminal arm of the homeodomain (p148h). "
3.	Histidine (L-Histidine)FDA Link 07/01/1997 - "We demonstrated previously that individuals affected with an autosomal dominant disorder of skull morphogenesis (craniosynostosis, Boston type) bear a mutated form of Msx2 in which a histidine is substituted for a highly conserved proline in position 7 of the N-terminal arm of the homeodomain (p148h). "