Carpenter Syndrome / Disease

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: [email protected]
Home page: http://www.agbell.org
AmeriFace
PO Box 751112
Las Vegas NV 89136
Phone #: 702-769-9264
800 #: 888-486-1209
e-mail: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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