Van den Ende Gupta Syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Van den end-Gupta syndrome is a very rare congenital disease with the main features blepharophimosis , arachnodactyly , joint contractures and characteristic dysmorphic features .

Synonyms are: Marden-Walker-like syndrome; VDEGS

The demarcation to Marden-Walker syndrome is based on the absence of microcephaly , intellectual disability , muscle hypotonia and failure to thrive .

The name refers to the first author of the first description from 1992 by the Brazilian human geneticist Jenny J. van den Ende and colleagues. and to a 1995 report by the London human geneticist Ajay Gupta and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far 7 affected families have been reported. Inheritance is autosomal - recessive .

root cause

The disease are mutations in SCARF2 - gene on chromosome 22 locus q11.21 basis that the scavenger pathway on lipid metabolism and the innate immune response is involved.

Clinical manifestations

Clinical criteria are:

In addition, there can be learning difficulties.

In veterinary medicine

The disease also occurs in animals such as the wirehaired fox terrier .

literature

  • MM Al-Qattan, DF Andejani, NA Sakati, K. Ramzan, F. Imtiaz: Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report. In: BMC medical genetics. Volume 19, number 1, 01 2018, p. 18, doi: 10.1186 / s12881-018-0531-y , PMID 29378527 , PMC 5789735 (free full text).
  • KY Niederhoffer, S. Fahiminiya, P. Eydoux, J. Mawson, G. Nishimura, LA Jerome-Majewska, MS Patel: Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. In: American journal of medical genetics. Part A. Volume 170, number 9, 09 2016, pp. 2310–2321, doi: 10.1002 / ajmg.a.37831 , PMID 27375131 .

Individual evidence

  1. ↑ a b c Van den Ende-Gupta syndrome. In: Orphanet (Rare Disease Database).
  2. ^ JJ van den Ende, Y. van Bever, ES Rodini, A. Richieri-Costa: Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. In: American journal of medical genetics. Volume 42, Number 4, February 1992, pp. 467-469, doi: 10.1002 / ajmg.1320420411 , PMID 1609830 .
  3. ^ A. Gupta, CM Hall, YF Ransley, VA Murday: A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation. In: Journal of Medical Genetics . Volume 32, number 10, October 1995, pp. 809-812, doi: 10.1136 / jmg.32.10.809 , PMID 8558561 , PMC 1051707 (free full text).
  4. ↑ Van den Ende-Gupta syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ N. Patel, MA Salih, MJ Alshammari, F. Abdulwahhab, N. Adly, F. Alzahrani, EA Elgamal, HY Elkhashab, M. Al-Qattan, FS Alkuraya: Expanding the clinical spectrum and allelic heterogeneity in van den Ende- Gupta syndrome. In: Clinical genetics. Volume 85, Number 5, May 2014, pp. 492-494, doi: 10.1111 / cge.12205 , PMID 23808541 .
  6. ↑ MK Hytönen, M. Arumilli, AK Lappalainen, M. Owczarek-Lipska, V. Jagannathan, S. Hundi, E. Salmela, P. Venta, E. Sarkiala, T. Jokinen, D. Gorgas, J. Kere, P. Nieminen, C. Drögemüller, H. Lohi: Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. In: PLoS genetics. Volume 12, number 5, 05 2016, p. E1006037, doi: 10.1371 / journal.pgen.1006037 , PMID 27187611 , PMC 4871343 (free full text).

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