Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Genetic Analysis of Craniosynostosis, Philadelphia Type

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: August 22, 2006
Last updated: January 24, 2017
Last verified: December 23, 2008

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.

Philadelphia Type Craniosynostosis

Study Type: Observational
Official Title: Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222)

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 25
Study Start Date: January 5, 2005
Estimated Study Completion Date: December 23, 2008
Detailed Description:

The objective of this study is to determine the molecular basis of craniosynostosis, Philadelphia type. Previous studies by our lab have excluded FGFR1, FGFR2 and FGFR3, the causative genes of most hereditary craniosynostosis syndromes. In the five generation kindred previously reported we have conducted a genome-wide linkage analysis. We have identified four regions linked to this disorder, namely on 2q, 12q, 20q and 22q. Interestingly, syndactyly 1A, a phenotypically similar disorder, demonstrates an overlapping linkage region in two studies. Screening of candidate genes in the redion has excluded ten candidate genes, including IHH, IGFBP2 and IGFBP5.

This protocol is primarily for research purposes. Research subjects may receive benefit from knowing that this research may help other families in the future. Results will be discussed with the primary physician who is a trained medical geneticist. We will emphasize that these are only preliminary findings, that they are not CLIA-approved, and must not be disclosed to the patient or included in the medical record. Repeat testing in a CLIA-approved lab would be required before the specific genetic information could be shared with the patient and family.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.


Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.

Medical condition(s) are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk.

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00367796

United States, Pennsylvania
Childrens Hospital, Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
  More Information

Publications: Identifier: NCT00367796     History of Changes
Other Study ID Numbers: 999905072
Study First Received: August 22, 2006
Last Updated: January 24, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Philadelphia Type

Additional relevant MeSH terms:
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Congenital Abnormalities processed this record on April 28, 2017