Genetic Analysis of Craniosynostosis, Philadelphia Type

NCT00367796 | Completed

• 2 other identifiers: 99990507205-HG-N072
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

This study will try to find the gene changes responsible for the birth defects in craniosynostosis, Philadelphia type. Craniosynostosis syndromes are a group of conditions that result from closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete. Because of the premature closure, the brain is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the joints have not yet closed. The defects in raniosynostosis, Philadelphia type, include skull malformations and webbing of the fingers and toes. Gene changes known to be involved in other craniosynostosis syndromes have not been found in the Philadelphia type syndrome. Therefore, finding the genetic basis of this disorder will provide important new information regarding craniofacial and limb development. This study includes members of a single large family affected with craniosynostosis, Philadelphia type. Participants have 1 to 2 teaspoons of blood drawn for genetic studies. A second blood sample may be requested for further research. Some blood may be used to establish a cell line for later studies. This involves growing the white blood cells from the blood sample. The cells can be kept in the laboratory to make more DNA or can be frozen for later use in craniosynostosis studies. Patients may also have their medical records reviewed.

Conditions

Craniosynostosis; Philadelphia Type Craniosynostosis

Keywords

Craniosynostosis; Philadelphia Type

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• This research includes only craniosynostosis Philadelphia type patients and members of a single family who were previously referred to us and other family members who have since displayed interest in participating in this study.

You may not qualify if:

• Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
• We generally reviewed a brief clinical description from the referring physician about a potential research subject to determine that the subject was appropriate to enter into the study. We reserved the right to exclude cases that were clearly not related to our direct research interests. For new participants, we will review the clinical description from the referring physician and we reserve the right to exclude cases.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

Childrens Hospital, Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (3)

• Robin NH, Segel B, Carpenter G, Muenke M. Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. Am J Med Genet. 1996 Mar 15;62(2):184-91. doi: 10.1002/(SICI)1096-8628(19960315)62:23.0.CO;2-K.

  PMID: 8882401 BACKGROUND

• Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nothen MM. Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. Am J Hum Genet. 2000 Aug;67(2):492-7. doi: 10.1086/303028. Epub 2000 Jun 30.

  PMID: 10877983 BACKGROUND

• Ghadami M, Majidzadeh-A K, Haerian BS, Damavandi E, Yamada K, Pasallar P, Najafi MT, Nishimura G, Tomita HA, Yoshiura KI, Niikawa N. Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family. Am J Med Genet. 2001 Nov 22;104(2):147-51. doi: 10.1002/ajmg.10061.

  PMID: 11746046 BACKGROUND

MeSH Terms

Conditions

Craniosynostoses; Craniosynostosis, Philadelphia Type

Condition Hierarchy (Ancestors)

Synostosis; Dysostoses; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: August 22, 2006
• First Posted: August 23, 2006
• Study Start: January 5, 2005
• Study Completion: December 23, 2008
• Last Updated: July 2, 2017

Record last verified: 2008-12-23

Locations

US (1)