Sakati 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

Sakati Syndrome

Synonyms of Sakati Syndrome

ACPS III
ACPS with Leg Hypoplasia
Acrocephalopolysyndactyly Type III
Sakati-Nyhan Syndrome

Disorder Subdivisions

General Discussion
Sakati syndrome is an extremely rare disorder that belongs to a group of rare genetic disorders known as Acrocephalopolysyndactyly (ACPS). 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). In addition, Sakati syndrome, which is also known as ACPS type III, is associated with abnormalities of bones of the legs, structural heart malformations that are present at birth (congenital heart defects), and/or other findings. Sakati syndrome is thought to be caused by a new genetic change (mutation) that occurs randomly for unknown reasons (sporadically). This mutation is inherited as an autosomal dominant trait.

Organizations related to Sakati Syndrome

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
Children's Craniofacial Association
13140 Coit Road
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: [email protected]
Home page: http://www.ccakids.com
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
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
National Craniofacial Foundation
3100 Carlisle Street
Dallas TX 75204
Phone #: --
800 #: 800-535-3643
e-mail: N/A
Home page: N/A
National Foundation for Facial Reconstruction
317 East 34th St.
New York NY 10016
Phone #: 212-263-6656
800 #: 800-422-3223
e-mail: [email protected]
Home page: http://www.nffr.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