MMEP syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The MMEP syndrome is a very rare congenital disease with the main features microcephaly , microphthalmia , ectrodactyly and prognathism .

Synonyms are: Syndromal Microphthalmia Type 8; Microcephaly - microphthalmia - lower extremity ectrodactyly - prognathy; Microphthalmia, syndromic, type 8; MCOPS8; Viljoen Smart Syndrome

The name refers to the authors of the first description from 1993 by the South African human geneticists DL Viljoen and R. Smart.

distribution

The frequency, cause and inheritance are not yet known.

Clinical manifestations

Clinical criteria are:

  • Microcephaly
  • Microphthalmia
  • Prognathy
  • Ectrodactyly

literature

  • G. Suthers, L. Morris: A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). In: Clinical dysmorphology. Volume 5, Number 1, January 1996, pp. 77-79, PMID 8867664 .

Individual evidence

  1. ↑ a b c MMEP syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ DL Viljoen, R. Smart: Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6; 13 translocation. In: Clinical dysmorphology. Volume 2, Number 3, July 1993, pp. 274-277, PMID 8287191 .
  3. ^ RA Kumar, DB Everman, CT Morgan, A. Slavotinek, CE Schwartz, EM Simpson: Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. In: BMC medical genetics. Volume 8, July 2007, p. 48, doi: 10.1186 / 1471-2350-8-48 , PMID 17655765 , PMC 1950490 (free full text).
  4. ↑ VS Vervoort, D. Viljoen, R. Smart, G. Suthers, BR DuPont, A. Abbott, CE Schwartz: Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t (6; 13) (q21; q12 ) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. In: Journal of Medical Genetics . Volume 39, Number 12, December 2002, pp. 893-899, PMID 12471201 , PMC 1757218 (free full text).

Web links