Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Carpenter Syndrome


Synonyms of Carpenter Syndrome
  • ACPS II
  • Acrocephalopolysyndactyly Type II

Disorder Subdivisions



    General Discussion
    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 mental retardation. However, intelligence is normal in some instances. Carpenter syndrome is usually inherited as an autosomal recessive trait.
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    Organizations related to Carpenter Syndrome
    • Alexander Graham Bell Association for the Deaf, Inc.
      3417 Volta Place, NW
      Washington D.C. 20007-2778
      Phone #: 202-337-5220
      800 #: 866-337-5220
      e-mail: info@agbell.org
      Home page: http://www.agbell.org
    • AmeriFace
      PO Box 751112
      Las Vegas NV 89136
      Phone #: 702-769-9264
      800 #: 888-486-1209
      e-mail: info@ameriface.org
      Home page: http://www.ameriface.org
    • American Heart Association
      National Center
      Dallas TX 75231-4596
      Phone #: 214-373-6300
      800 #: 800-242-8721
      e-mail: inquire@heart.org
      Home page: http://www.americanheart.org
    • Congenital Heart Anomalies, Support, Education, & Resources
      2112 North Wilkins Road
      Swanton OH 43558
      Phone #: 419-825-5575
      800 #: --
      e-mail: chaser@compuserve.com
      Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
    • FACES: The National Craniofacial Association
      P.O. Box 11082
      Chattanooga TN 37401
      Phone #: 423-266-1632
      800 #: 800-332-2373
      e-mail: faces@faces-cranio.org
      Home page: http://www.faces-cranio.org
    • Forward Face, Inc.
      317 East 34th Street
      New York NY 10016
      Phone #: 212-684-5860
      800 #: 800-393-3223
      e-mail: info@forwardface.org
      Home page: http://www.forwardface.org
    • Institute of Reconstructive Plastic Surgery (New York University Medical Center New York University School of Medicine)
      New York University Medical Center
      New York NY 10016
      Phone #: 212-263-5834
      800 #: --
      e-mail: jennifer.zahn@med.nyu.edu
      Home page: http://www.med.nyu.edu/irps
    • Let's Face It (USA)
      P.O. Box 29972
      Bellingham WA 98228-1972
      Phone #: 360-676-7325
      800 #: --
      e-mail: faceit@umich.edu
      Home page: http://www.dent.umich.edu/faceit
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
      1 Communication Ave
      Bethesda MD 20892-3456
      Phone #: 301-402-0900
      800 #: 800-241-1044
      e-mail: nidcdinfo@nidcd.nih.gov
      Home page: http://www.nidcd.nih.gov
    • National Craniofacial Foundation
      3100 Carlisle Street
      Dallas TX 75204
      Phone #: --
      800 #: 800-535-3643
      e-mail: N/A
      Home page: N/A
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html