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 22 free, full-text research articles on human participants. First 3 results:

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
 

Author(s): Leslie E Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D Notarangelo, Silvia Giliani, Eric Bouhassira, Paul Frenette, Jayanta Roy-Chowdhury, Charles E Rogler

Journal: Hum. Mol. Genet.. 2014 Jan;23(2):368-82.

 

Post-transcriptional processing of some long non-coding RNAs (lncRNAs) reveals that they are a source of miRNAs. We show that the 268-nt non-coding RNA component of mitochondrial RNA processing endoribonuclease, (RNase MRP), is the source of at least two short (∼20 nt) RNAs designated ...

Last Updated: 23 Dec 2013

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Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
 

Author(s): Miguel A de la Fuente, Mike Recher, Nicholas L Rider, Kevin A Strauss, D Holmes Morton, Margaret Adair, Francisco A Bonilla, Hans D Ochs, Erwin W Gelfand, Itai M Pessach, Jolan E Walter, Alejandra King, Silvia Giliani, Sung-Yun Pai, Luigi D Notarangelo

Journal: J. Allergy Clin. Immunol.. 2011 Jul;128(1):139-46.

 

Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused by mutations in the RNA component of the mitochondrial RNA processing (RMRP) endoribonuclease gene, ...

Last Updated: 4 Jul 2011

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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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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

There are currently no open clinical trials for this condition.