Roifman syndrome

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Classification according to ICD-10
Q77.7 Dysplasia spondyloepiphysaria
ICD-10 online (WHO version 2019)

The Roifman syndrome is a very rare congenital disease with a combination of spondyloepiphysärer dysplasia , retinal dystrophy and immune deficiency .

Synonyms are: English Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

The name refers to the author of the first description from 1997 by the Canadian doctor Chaim M. Roifman.

The syndrome should not be confused with the Roifman-Chitayat syndrome (combined immunodeficiency with facio-oculo-skeletal abnormalities) or the Roifman-Melamed syndrome , now known as spondyloenchondrodysplasia .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in RNU4ATAC - gene on chromosome 2 locus q14.2 basis.

Clinical manifestations

Clinical criteria are:

literature

  • A. Hallermayr, J. Graf, U. Koehler, A. Laner, B. Schönfeld, A. Benet-Pagès, E. Holinski-Feder: Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome . In: Clinical case reports. Volume 6, number 11, November 2018, pp. 2224–2228, doi: 10.1002 / ccr3.1830 , PMID 30455926 , PMC 6230649 (free full text).
  • Y. Dinur Schejter, A. Ovadia, R. Alexandrova, B. Thiruvahindrapuram, SL Pereira, DE Manson, A. Vincent, D. Merico, CM Roifman: A homozygous mutation in the stem II domain of causes typical Roifman syndrome. In: NPJ genomic medicine. Volume 2, 2017, p. 23, doi: 10.1038 / s41525-017-0024-5 , PMID 29263834 , PMC 5677950 (free full text).
  • D. Merico, M. Roifman, U. Braunschweig, RK Yuen, R. Alexandrova, A. Bates, B. Reid, T. Nalpathamkalam, Z. Wang, B. Thiruvahindrapuram, P. Gray, A. Kakakios, J. Peake , S. Hogarth, D. Manson, R. Buncic, SL Pereira, JA Herbrick, BJ Blencowe, CM Roifman, SW Scherer: Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. In: Nature Communications . Volume 6, November 2015, p. 8718, doi: 10.1038 / ncomms9718 , PMID 26522830 , PMC 4667643 (free full text)

Individual evidence

  1. ↑ a b c Roifman syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ CM Roifman: Immunological aspects of a novel immunodeficiency syndrome that includes antibody deficiency with normal immunoglobulins, spondyloepiphyseal dysplasia, growth and developmental delay, and retinal dystrophy. In: Canadian Journal of Allergy and Clinical Immunology. Vol. 2: pp. 94-98, 1997.
  3. ↑ CM Roifman: Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome. In: Clinical genetics. Volume 55, Number 2, February 1999, pp. 103-109, PMID 10189087 .
  4. ↑ Combined immunodeficiency with facio-oculoskeletal anomalies. In: Orphanet (Rare Disease Database).
  5. ↑ Roifman syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ PJ de Vries, DL McCartney, E. McCartney, D. Woolf, D. Wozencroft: The cognitive and behavioral phenotype of Roifman syndrome. In: Journal of intellectual disability research: JIDR. Volume 50, Pt 9 September 2006, pp. 690-696, doi: 10.1111 / j.1365-2788.2006.00817.x , PMID 16901296 .

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