Achondrogenesis

Important
It is possible that the main title of the report Achondrogenesis 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

Chondrogenesis Imperfecta
Hypochondrogenesis
Lethal Neonatal Dwarfism
Lethal Osteochondrodysplasia
Neonatal Dwarfism

Disorder Subdivisions

Houston-Harris Type, Achrondrogenesis (Type IA)
Fraccaro Type, Achondrogenesis (Type IB)
Langer-Salidino Type, Achondrogensis (Type II)
Achondrogenesis, Type III
Achondrogenesis, Type IV

General Discussion

Achondrogenesis is a very rare disorder characterized by extreme short limbed dwarfism, lack of development of ribs and other major bone formation. The head is usually shaped in a normal way (normocephaly) but may be unusually soft depending on the type of achondrogenesis involved. There are several different types of Achondrogenesis, some of which may be life-threatening either in the womb (in utero) or shortly after birth. Achondrogenesis can be inherited as an autosomal or dominant recessive genetic trait.

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

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

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: 8/17/2007
Copyright 1992, 1999, 2004, 2007 National Organization for Rare Disorders, Inc.

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