Hoyeraal Hreidarsson syndrome

Common Name(s)

Hoyeraal Hreidarsson syndrome

Hoyeraal Hreidarsson syndrome (HHS) is a very rare, and usually fatal genetic condition which almost always occurs in boys. HHS is thought to be a more severe form of another condition known as dyskeratosis congenita (please also visit: dyskeratosis congenita.). The symptoms of HHS include poor in utero growth, a smaller than average head (microcephaly), an underdeveloped brain, a weak immune system (the body can’t fight off sickness; immunodeficiency), and aplastic anemia (when the body stops making enough new blood cells). Because these complications occur before the child is born, they can sometimes be diagnosed through a prenatal ultrasound or shortly after birth. Reports of HHS are rare, however it is possible that it is underdiagnosed due to babies with HHS dying very early. Brain imaging can aid in correct diagnosis and family history may be helpful. Treatments are generally symptomatic and immunodeficiency and aplastic anemia can potentially be treated by bone marrow transplant. There is currently no cure available, but talk to your doctor for the most up to date information. Support groups are also a good resource of information and support.

Hoyeraal Hreidarsson syndrome is a telomere biology disorder (please also visit: Telomere biology disorder.). Telomeres are the buffers at the end of the chromosomes (long strands of DNA in the cells containing genetic information) which function to protect the DNA near the end of the strands. HHS is inherited or passed through families in an X-linked recessive pattern meaning that it results from a mutation or error in a person’s DNA or genes on the X chromosome. Talk with a genetic counselor or specialist if you or someone in your family has been diagnosed with HHS or is a known or possible carrier.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hoyeraal Hreidarsson syndrome" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

Last Updated: 2 Oct 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hoyeraal Hreidarsson syndrome" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

http://www.dcoutreach.com

Last Updated: 2 Oct 2014

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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 "Hoyeraal Hreidarsson syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
 

Author(s): Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini

Journal: PLoS Genet.. 2013 Aug;9(8):e1003695.

 

Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant ...

Last Updated: 6 Sep 2013

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Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
 

Author(s): Zhong Deng, Galina Glousker, Aliah Molczan, Alan J Fox, Noa Lamm, Jayaraju Dheekollu, Orr-El Weizman, Michael Schertzer, Zhuo Wang, Olga Vladimirova, Jonathan Schug, Memet Aker, Arturo Londoño-Vallejo, Klaus H Kaestner, Paul M Lieberman, Yehuda Tzfati

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Sep;110(36):E3408-16.

 

Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited ...

Last Updated: 4 Sep 2013

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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
 

Author(s): Tangui Le Guen, Laurent Jullien, Fabien Touzot, Michael Schertzer, Laetitia Gaillard, Mylène Perderiset, Wassila Carpentier, Patrick Nitschke, Capucine Picard, Gérard Couillault, Jean Soulier, Alain Fischer, Isabelle Callebaut, Nada Jabado, Arturo Londono-Vallejo, Jean-Pierre de Villartay, Patrick Revy

Journal: Hum. Mol. Genet.. 2013 Aug;22(16):3239-49.

 

Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective in HHS/DC, ...

Last Updated: 26 Jul 2013

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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 "Hoyeraal Hreidarsson syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Hoyeraal Hreidarsson Syndrome; Revesz Syndrome; Aplastic Anemia

 

Last Updated: 20 May 2014

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SCT for Dyskeratosis Congenita or SAA
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 4 Mar 2014

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Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
 

Status: Not yet recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 10 Jun 2014

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