Cartilage-Hair Hypoplasia

Common Name(s)

Cartilage-Hair Hypoplasia, Metaphyseal chondrodysplasia, McKusick type

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer, particularly blood, skin, and immune system cancers. Gastrointestinal problems are also common. Cartilage-hair hypoplasia is caused by mutations in the RMRP gene and is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cartilage-Hair Hypoplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cartilage-Hair Hypoplasia" returned 18 free, full-text research articles on human participants. First 3 results:

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
 

Author(s): Victoria Bordon, Andrew R Gennery, Mary A Slatter, Els Vandecruys, Genevieve Laureys, Paul Veys, Waseem Qasim, Qasim Waseem, Wilhelm Friedrich, Nico M Wulfraat, Franziska Scherer, Andrew J Cant, Alain Fischer, Marina Cavazzana-Calvo, Marina Cavazanna-Calvo, Robbert G M Bredius, Luigi D Notarangelo, Evelina Mazzolari, Benedicte Neven, Tayfun Güngör, Güngör Tayfun,

Journal: Blood. 2010 Jul;116(1):27-35.

 

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous ...

Last Updated: 9 Jul 2010

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Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.
 

Author(s): Gülten Türkkani-Asal, Yasemin Alanay, Tuba Turul-Ozgür, Martin Zenker, Christian Thiel, Anita Rauch, Sule Unal, Aytemiz Gürgey, Ilhan Tezcan

Journal: Turk. J. Pediatr.. ;51(5):493-6.

 

Cartilage-hair hypoplasia (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of skeletal dysplasia and immunodeficiency. It is characterized by disproportionate short stature, fine sparse hair, ligamentous laxity, hematological abnormalities with ...

Last Updated: 1 Feb 2010

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Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
 

Author(s): Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F Boerkoel, Ilkka Kaitila

Journal: Am. J. Med. Genet. A. 2008 Aug;146A(15):2013-7.

 

Last Updated: 29 Jul 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cartilage-Hair Hypoplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Cartilage-hair hypoplasia.
 

Author(s): O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila

Journal: J. Med. Genet.. 1995 Jan;32(1):39-43.

 

Last Updated: 27 Apr 1995

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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