Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)

Am J Med Genet A. 2020 Jul;182(7):1572-1575. doi: 10.1002/ajmg.a.61617. Epub 2020 May 14.


Sotos syndrome is a widely studied overgrowth syndrome. Clinical presentation includes excessive growth during childhood, macrocephaly, learning difficulties of various degrees, variable minor features, and distinctive facial gestalt. We provide in this report the first phenotypic and growth description of Sotos syndrome in a patient from Central Africa. At 6 month the patient exhibited axial hypotonia, delayed speech development and dysmorphism including long face, sparse eyebrows, hypertelorism, malar hypoplasia and dark flushing, short philtrum, depressed nasal root, anteverted nares, thick upper and lower lip vermilions, macroglossia, prominent forehead, large and peculiar ears, wide intermammillary distance, deep palmar creases, dysplastic finger nails, partial syndactyly of toes, broad, and overlapping hallux. At 19 months, malar flushing became reddish and a retraction of the middle of the lower lip was observed, resembling a bifid lip. He retained the same clinical features at 31 months. Head circumference, weight, and height where within normal ranges at birth but became all above 97th centiles at 4 months. The height velocity evolved in three phases starting with a very fast growth from birth to 6 months (54 cm/year), then a fast phase from 6 to 16 months (18 cm/year) and a slow phase from 16 to 31 months (4.8 cm/year). Conversely, the patient exhibited an acceleration of weight after the first year of life. Our patient exhibited very prominent lips and deep philtrum, which are common facial traits in African individuals. The current report shows an admixture of ethnic-specific features with syndrome-specific features in an African patient.

Keywords: NSD1; Central Africa; Sotos; dysmorphism.

Publication types

  • Case Reports

MeSH terms

  • Body Weight
  • Child, Preschool
  • Democratic Republic of the Congo
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / etiology
  • Psychomotor Disorders / etiology
  • Sotos Syndrome / etiology*
  • Sotos Syndrome / genetics
  • Syndactyly
  • Toes / abnormalities


  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human