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Hypochondroplasia
Important
It is possible that the main title of the report Hypochondroplasiais not the name you expected.
Synonyms
- HCH
Disorder Subdivisions
- None
General Discussion
Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (short-limbed dwarfism). Short stature often is not recognized until early to mid childhood or, in some cases, as late as adulthood. In those with the disorder, bowing of the legs typically develops during early childhood but often improves spontaneously with age. Some affected individuals may also have an abnormally large head (macrocephaly), a relatively prominent forehead, and/or other physical abnormalities associated with the disorder. In addition, in about 10 percent of cases, mild mental retardation may be present.
In some cases, hypochondroplasia appears to occur randomly for unknown reasons (sporadically) with no apparent family history. In other instances, the disorder is familial with autosomal dominant inheritance.
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Resources
Human Growth Foundation
997 Glen Cove Avenue
Glen Head
NY
11545
Tel: (516)671-4041
Fax: (516)671-4055
800: (800)451-6434
hgf1@hgfound.org
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
800: (800)362-4423
mary@magicfoundation.org
http://www.magicfoundation.org
Little People's Research Fund, Inc.
616 Old Edmondson Avenue
2nd Floor
Catonsville
MD
21228-3305
USA
Tel: (410)747-1100
Fax: (410)747-1374
800: (800)232-5773
lprf@lprf.org
http://www.lprf.org
Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin
CA
92780
Tel: (714)368-3689
800: (888)572-2001
info@lpaonline.org
http://www.lpaonline.org
Restricted Growth Association
P.O. Box 4744
Dorchester
Dorset
Intl
DT2 9FA
United Kingdom
Tel: 01308 898445
Fax: 01308 898445
http://www.restrictedgrowth.co.uk
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov/Health_Info
European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester
M13 9PT
UK
Tel: 44 161 275 5642
Fax: 44 161 275 5082
info@esdn.org
http://www.esdn.org
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: 9/17/2007
Copyright 1988, 1989, 1994, 2001, 2003, 2007 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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