C Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report C 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.

Synonyms

  • Opitz Trigonocephaly Syndrome
  • Trigonocephaly "C" Syndrome
  • Trigonocephaly Syndrome

Disorder Subdivisions

  • None

General Discussion

C syndrome, also known as Opitz trigonocephaly syndrome, is a rare disorder transmitted as a result of "gonadal mosaicism". Mosaicism refers to a condition in which a person has cells that differ from each other in genetic makeup. The difference is usually a variation in the number of chromosomes. Normally, all body cells would have 46 chromosomes, but in mosaicism, some cells may have 45 or 47. Mosaicism occurs as a result of an error in cell division very early in fetal development.

Affected individuals are born with a malformation in which the head is a triangular shape due to premature union of the skull bones (trigonocephaly), a narrow pointed forehead, a flat broad nasal bridge with a short nose, vertical folds over the inner corners of the eyes, an abnormal palate that is deeply furrowed, abnormalities of the ear, crossed eyes (strabismus), joints that are bent or in a fixed position, and loose skin. Developmental and learning disabilities are common.

Resources

FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

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