Hoyeraal Hreidarsson syndrome
Hoyeraal Hreidarsson syndrome (HHS) is a rare, inherited disorder characterized by early onset of bone marrow failure, immunodeficiency, developmental delay, and cerebellar hypoplasia. It is considered a severe variant of Dyskeratosis congenita.
Pronunciation
Hoyeraal Hreidarsson syndrome is pronounced as "Hoy-er-aal Hrei-dar-sson syndrome".
Etymology
The syndrome is named after the Norwegian pediatrician Jon Hoyeraal and the Icelandic pediatrician Oskar Hreidarsson, who first described the condition in 1970.
Symptoms
The main symptoms of Hoyeraal Hreidarsson syndrome include:
Causes
Hoyeraal Hreidarsson syndrome is caused by mutations in the DKC1, TERC, TERT, NOP10, NHP2, WRAP53, TCAB1, or CTC1 genes. These genes are involved in the maintenance of telomeres, which are structures found at the ends of chromosomes that protect them from damage.
Diagnosis
Diagnosis of Hoyeraal Hreidarsson syndrome is based on clinical features, family history, and genetic testing. The presence of very short telomeres on genetic testing is a key diagnostic feature.
Treatment
Treatment of Hoyeraal Hreidarsson syndrome is supportive and may include bone marrow transplantation, immunoglobulin replacement therapy, and other treatments as needed based on the specific symptoms present.
See also
- Dyskeratosis congenita
- Bone marrow failure
- Immunodeficiency
- Developmental delay
- Cerebellar hypoplasia
External links
- Medical encyclopedia article on Hoyeraal Hreidarsson syndrome
- Wikipedia's article - Hoyeraal Hreidarsson syndrome
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