Conradi Hunermann Syndrome

Important
It is possible that the main title of the report Conradi Hunermann 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

Chondrodystrophia Calcificans Congenita
Conradi Disease
Dysplasia Epiphysialis Punctata
Chondrodysplasia Punctata, X-linked Dominant Type

Disorder Subdivisions

None

General Discussion

Conradi-Hunermann syndrome is a form of chondrodysplasia punctata, a group of rare, genetic disorders of skeletal development (skeletal dysplasias) characterized by unusual, "dotlike" (punctate) opacities representing abnormal accumulations of calcium salts (calcifications) within the growing ends of long bones (i.e., "stippled" epiphyses) and other regions. Conradi-Hunermann syndrome is commonly associated with mild to moderate growth deficiency; disproportionate shortening of long bones, particularly those of the upper arms (humeri) and the thigh bones (femora); short stature; and/or curvature of the spine. Many affected individuals also have a prominent forehead; unusually flattened midfacial regions (midfacial hypoplasia), with a low nasal bridge; loss of transparency of the lenses of the eyes (cataracts); sparse, coarse scalp hair; and/or abnormal thickening, dryness, and scaling of the skin. In rare cases, mild to moderate mental retardation may also be present. Evidence suggests that Conradi-Hunermann syndrome is usually inherited as an X-linked dominant trait that predominantly occurs in females. However, rare cases have also been reported in which males are affected.
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Resources

Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Internet: http://www.hgfound.org/

MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: mary@magicfoundation.org
Internet: http://www.magicfoundation.org

Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales, PA 19454
Tel: (215)619-0670
Fax: (215)619-0780
Tel: (800)545-3286
Email: info@scalyskin.org
Internet: http://www.scalyskin.org

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Little People's Research Fund, Inc.
616 Old Edmondson Avenue
2nd Floor
Catonsville, MD 21228-3305
USA
Tel: 4107471100
Fax: 4107471374
Tel: 8002325773
Email: lprf@lprf.org
Internet: http://www.lprf.org

Little People of America, Inc.
5289 Northeast Elam Young Parkway
Suite F100
Hillsboro, OR 97124
Tel: (503)846-1562
Fax: (503)846-1590
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org

Restricted Growth Association
P.O. Box 4744
Dorchester
Dorset, Intl DT2 9FA
United Kingdom
Tel: 01308 898445
Fax: 01308 898445
Internet: http://www.restrictedgrowth.co.uk

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: http://www.nei.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: 8/22/2001
Copyright 1987, 1990, 1996, 2001 National Organization for Rare Disorders, Inc.

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