Synonyms

• 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

Disorder Subdivisions

• None

General Discussion

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).

Resources

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

Cleft Palate Foundation
1504 East Franklin Street
Suite 102
Chapel Hill, NC 27514-2820
USA
Tel: (919)933-9044
Fax: (919)933-9604
Tel: (800)242-5338
Email: info@cleftline.org
Internet: http://www.cleftline.org

American Heart Association
8200 Brookriver Drive
Suite N-100
Dallas, TX 75247
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.org

Prescription Parents
22 Ingersoll Road
P.O. Box 920554
Wellesley, MA 02181
USA
Tel: (617)499-1936
Email: info@prescriptionparents.org
Internet: http://www.prescriptionparents.org

NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

Wide Smiles
P.O. Box 5153
Stockton, CA 95205-0153
USA
Tel: (209)942-2812
Fax: (209)464-1497
Email: josmiles@yahoo.com
Internet: http://www.widesmiles2.org/

Pierre Robin Network
3604 Biscayne
Quincy, IL 62305
USA
Tel: (217)224-0698
Fax: (217)224-2867
Email: info@pierrerobin.org
Internet: http://www.pierrerobin.org

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/

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 orphan@rarediseases.org

Last Updated:  4/4/2008
Copyright  1997, 2001, 2002 National Organization for Rare Disorders, Inc.