Catel Manzke Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Catel Manzke 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.
- Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome
- Pierre Robin Syndrome with Hyperphalangy and Clinodactyly
- Index Finger Anomaly with Pierre Robin Syndrome
- Catel-Manzke Type Palatodigital Syndrome
Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate).
Infants with Catel-Manzke syndrome have an extra (supernumerary), irregularly shaped bone (i.e., hyperphalangy) located between the first bone of the index finger (proximal phalanx) and the corresponding bone within the body of the hand (second metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (clinodactyly). In some cases, additional abnormalities of the hands may also be present. Due to the presence of micrognathia, glossoptosis, and cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; repeated middle ear infections (otitis media); and/or other complications. In addition, some infants with the syndrome may have structural abnormalities of the heart that are present at birth (congenital heart defects). The range and severity of symptoms and findings may vary from case to case. Catel-Manzke syndrome usually appears to occur randomly, for unknown reasons (sporadically).
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Cleft Palate Foundation
1504 East Franklin Street
Chapel Hill, NC 27514-2820
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton, OH 43558
Prescription Parent, Inc.
P.O. Box 920554
Needham, MA 02492
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
P.O. Box 5153
Stockton, CA 95205-0153
Pierre Robin Network
Quincy, IL 62305
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
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