Trichorhinophalangeal Syndrome Type III
Trichorhinophalangeal Syndrome Type III
Important
It is possible that the main title of the report Trichorhinophalangeal Syndrome Type III 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.
Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a pear-shaped or rounded (bulbous) nose; an abnormally long prominent groove (philtrum) in the upper lip; and/or abnormalities such as delayed eruption of teeth. In addition, affected individuals also exhibit severe shortening of the fingers and toes (brachydactyly) due to improper development of bones in the hands and feet (metacarpophalangeal shortening). Additional features often include short stature (dwarfism) and/or additional skeletal abnormalities. The range and severity of symptoms may vary from case to case. TRPS3 is thought to have autosomal dominant inheritance.
Human Growth Foundation
997 Glen Cove Avenue
Suite 5
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/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
Little People of America, Inc.
250 El Camino Real Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Tel: (202)362-9599
Fax: (202)966-8553
Tel: (800)778-7171
Email: chdct@pxe.org
Internet: http://www.chdct2.org/
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
Internet: http://rarediseases.info.nih.gov/GARD/
Trichorhinophalangeal Syndrome Association
6585 Dawn Way East
Inver Grove Heights, MN 55076
Tel: (651)450-0788
Email: TRPSA@comcast.net
Internet: http://trpsa.org/trpsa_wp/
It is possible that the main title of the report Trichorhinophalangeal Syndrome Type III 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
- TRPS3
- Sugio-Kajii Syndrome
Disorder Subdivisions
- None
General Discussion
Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a pear-shaped or rounded (bulbous) nose; an abnormally long prominent groove (philtrum) in the upper lip; and/or abnormalities such as delayed eruption of teeth. In addition, affected individuals also exhibit severe shortening of the fingers and toes (brachydactyly) due to improper development of bones in the hands and feet (metacarpophalangeal shortening). Additional features often include short stature (dwarfism) and/or additional skeletal abnormalities. The range and severity of symptoms may vary from case to case. TRPS3 is thought to have autosomal dominant inheritance.
Resources
Human Growth Foundation
997 Glen Cove Avenue
Suite 5
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/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
Little People of America, Inc.
250 El Camino Real Suite 201
Tustin, CA 92780
Tel: (714)368-3689
Fax: (714)368-3367
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Tel: (202)362-9599
Fax: (202)966-8553
Tel: (800)778-7171
Email: chdct@pxe.org
Internet: http://www.chdct2.org/
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
Internet: http://rarediseases.info.nih.gov/GARD/
Trichorhinophalangeal Syndrome Association
6585 Dawn Way East
Inver Grove Heights, MN 55076
Tel: (651)450-0788
Email: TRPSA@comcast.net
Internet: http://trpsa.org/trpsa_wp/
