Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of DC. Using exome sequencing, Kocak et al. identified mutations in ACD (encoding TPP1), a component of the telomeric shelterin complex, in one family affected by HH. Characterization of the mutations revealed that the single-amino-acid deletion affecting Hoyeraal-Hreidarsson-Syndrom. Krankheitsdefinition. Eine X-chromosomale syndromale Intelligenzminderung, die als eine schwere Variante des Dyskeratosis congenita (siehe Hoyeraal-Hreidarsson syndrome (HH) has been defined as a severe variant of dyskeratosis congenita (DKC). We report here a case of a 6-year-old girl with HH who presented with bone marrow hypoplasia, skin pigmentation, nail dystrophy, growth retardation, and bilateral retinal hemorrhage. Brain MRI revealed cerebellar hypoplasia, The eponym Hoyeraal–Hreidarsson (HH) syndrome was first coined by Aalfs et al. describing similar cases previously reported by Hoyeraal in and then Hreidarsson in 1 HH syndrome is a The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency Eur J Pediatr. Dec;(12) doi: /BF Authors F Berthet, P Tuchschmid, E Boltshauser, R A Seger. PMID: DOI: /BF No abstract available. Publication types About Hoyeraal-Hreidarsson syndrome. Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease: Population
Complications for a Hoyeraal-Hreidarsson Syndrome Patient
Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These “telomeropathies” also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congenita, as well as a subset of idiopathic pulmonary fibrosis, aplastic Hoyeraal-Hreidarsson syndrome. This syndrome is a severe form of dyskeratosis congenita with poor growth inside the womb, microcephaly (small head), and pancytopenia (low
Hoyeraal-Hreidarsson Syndrome | Hereditary Ocular Diseases
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