0-9 - 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

Pallister Killian Mosaic Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

View Full Report

Synonyms of Pallister Killian Mosaic Syndrome

Chromosome 12, Isochromosome 12p syndrome
Killian Syndrome
Killian/Teschler-Nicola Syndrome
Pallister Mosaic Syndrome
Teschler-Nicola/Killian Syndrome
Tetrasomy 12p, mosaic

Disorder Subdivisions

No subdivisions found.

General Discussion

Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.

Organizations related to Pallister Killian Mosaic Syndrome

Chromosome Disorder Outreach, Inc.
- P.O. Box 724
- Boca Raton, FL 33429-0724 USA
- Phone #: 561-395-4252
- 800 #: N/A
- e-mail: info@chromodisorder.org
- Home page: http://www.chromodisorder.org/CDO/
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone #: 301-251-4925
- 800 #: 888-205-2311
- e-mail: N/A
- Home page: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation
- PO Box 241956
- Los Angeles, CA 90024
- Phone #: 310-264-0826
- 800 #: N/A
- e-mail: getinfo@madisonsfoundation.org
- Home page: http://www.madisonsfoundation.org
MUMS National Parent-to-Parent Network
- 150 Custer Court
- Green Bay, WI 54301-1243 USA
- Phone #: N/A
- 800 #: N/A
- e-mail: mums@netnet.net
- Home page: http://www.netnet.net/mums/
PKS Kids
- PO Box 94
- Florissant, MO 63032-0094
- Phone #: N/A
- 800 #: N/A
- e-mail: zanehome@optonline.net
- Home page: http://www.pkskids.net
The Arc
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Phone #: 202-534-3700
- 800 #: 800-433-5255
- e-mail: info@thearc.org
- Home page: http://www.thearc.org
UNIQUE - Rare Chromosome Disorder Support Group
- P.O. Box 2189
- Caterham
- Surrey, CR3 5GN United Kingdom
- Phone #: 440-188-3330766
- 800 #: --
- e-mail: info@rarechromo.org
- Home page: http://www.rarechromo.org

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.