Important It is possible that the main title of the report Carpenter Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
acrocephalopolysyndactyly type II
Carpenter syndrome belongs to a group of rare genetic disorders known as "acrocephalopolysyndactyly" (ACPS) disorders. All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). Carpenter syndrome is also known as ACPS type II.
Carpenter syndrome is typically evident at or shortly after birth. Due to craniosynostosis, the top of the head may appear unusually conical (acrocephaly) or the head may seem short and broad (brachycephaly). In addition, the cranial sutures often fuse unevenly, causing the head and face to appear dissimilar from one side to the other (craniofacial asymmetry). Additional malformations of the skull and facial (craniofacial) region may include downslanting eyelid folds (palpebral fissures); a flat nasal bridge; malformed (dysplastic), low-set ears; and a small, underdeveloped (hypoplastic) upper and/or lower jaw (maxilla and/or mandible).
Individuals with Carpenter syndrome may also have unusually short fingers and toes (brachydactyly); partial fusion of the soft tissues (cutaneous syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly, additional fingers (polydactyly). In some instances, additional physical abnormalities are present, such as short stature, structural heart malformations (congenital heart defects), mild to moderate obesity, weakening in the abdominal wall near the navel through which the intestine may protrude (umbilical hernia), or failure of the testes to descend into the scrotum (cryptorchidism) in affected males. In addition, many individuals with the disorder are affected by mild to moderate intellectual disability. However, intelligence is normal in some instances. Carpenter syndrome is usually inherited as an autosomal recessive condition.
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
FACES: The National Craniofacial Association PO Box 11082 Chattanooga, TN 37401 Tel: (423)266-1632 Fax: (423)267-3124 Tel: (800)332-2373 Email: email@example.com Internet: http://www.faces-cranio.org
The Arc 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: firstname.lastname@example.org Internet: http://www.thearc.org
Let's Face It University of Michigan, School of Dentistry / Dentistry Library 1011 N. University Ann Arbor, MI 48109-1078 USA Tel: (360)676-7325 Email: email@example.com Internet: http://www.dent.umich.edu/faceit
AmeriFace P.O. Box 751112 Limekiln, PA 19535 USA Tel: (702)769-9264 Fax: (702)341-5351 Tel: (888)486-1209 Email: firstname.lastname@example.org Internet: http://www.ameriface.org
Alexander Graham Bell Association for the Deaf and Hard of Hearing 3417 Volta Place NW Washington, DC 20007-2778 United States Tel: (202)337-5220 Fax: (202)337-8314 Tel: (866)337-5220 TDD: (202)337-5221 Email: email@example.com Internet: http://www.agbell.org
American Heart Association 7272 Greenville Avenue Dallas, TX 75231 Tel: (214)784-7212 Fax: (214)784-1307 Tel: (800)242-8721 Email: Review.firstname.lastname@example.org Internet: http://www.heart.org
Institute of Reconstructive Plastic Surgery (New York Medical University) 560 First Avenue New York, NY 10016 USA Tel: (212)263-5834 Fax: (212)263-5400 Email: email@example.com Internet: http://www.surgery.med.nyu.edu/plastic
NIH/National Institute on Deafness and Other Communication Disorders 31 Center Drive, MSC 2320 Communication Avenue Bethesda, MD 20892-3456 Tel: (301)402-0900 Fax: (301)907-8830 Tel: (800)241-1044 TDD: (800)241-1105 Email: firstname.lastname@example.org Internet: http://www.nidcd.nih.gov
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Cleft Lip and Palate Foundation of Smiles 2044 Michael Ave SW Wyoming, MI 49509 Tel: (616)329-1335 Email: Rachelmancuso09@comcast.net Internet: http://www.cleftsmile.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 11/3/2010 Copyright 1989, 1995, 1996, 1997, 2000, 2003, 2010 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.