Yunis Varon Syndrome

Important
It is possible that the main title of the report Yunis Varon 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

Cleidocranial Dysplasia w/ Micrognathia, Absent Thumbs, & Distal Aphalangia

Disorder Subdivisions

None

General Discussion

Yunis-Varon syndrome is an extremely rare genetic multisystem disorder with defects affecting the skeletal; ectodermal tissue (i.e., nails, hair, and teeth); and cardiorespiratory (i.e., heart and lungs) systems. It is characterized by growth retardation prior to and after birth; defective growth of the bones of the skull along with complete or partial absence of the shoulder blades (cleidocranial dysplasia); characteristic facial features; and/or abnormalities of the fingers and/or toes. Characteristic facial features may include an extremely small jaw (micrognathia), thin lips, sparse or absent eyebrows and/or eyelashes, and/or an unusually short vertical groove (philtrum) in the upper lip. Abnormalities of the fingers and toes may include absence (aplasia) or underdevelopment (hypoplasia) of the thumbs and/or the bones at the ends of the fingers and the great toes (distal phalanges). In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects (e.g., abnormal enlargement of the heart muscle [hypertrophic cardiomyopathy]). In some cases, feeding problems, respiratory difficulties, and/or heart defects may result in life-threatening complications during infancy. Yunis-Varon syndrome is inherited as an autosomal recessive trait.

Resources

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

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

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: 4/18/2008
Copyright 1997, 1998, 2005 National Organization for Rare Disorders, Inc.

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