Malan's syndrome

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Classification according to ICD-10
Q87.3 Congenital malformation syndromes with increased tissue growth in early childhood
ICD-10 online (WHO version 2019)

The Malan's syndrome is a very rare congenital to the overgrowth syndromes Counted malformation syndrome with the main features of overgrowth , macrocephaly , facial dysmorphia , developmental delay and mental retardation .

Synonyms are: Malan's tall stature syndrome; Sotos syndrome type 2

The name refers to the first author of the first description from 2010 by the French human geneticist Valérie Malan and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, a possible inheritance mechanism is not known.

root cause

The disease are mutations in NFIX - gene on chromosome 19 locus p13.13 based encoding a protein of the CCAAT / enhancer binding proteins encoded family.

Mutations in this gene are also found in Marshall-Smith syndrome .

Clinical manifestations

Clinical criteria are:

  • Macrocephaly
  • Facial abnormalities with a high forehead and high hairline, slanted eyelid slits, prominent chin
  • Developmental Delay and Intellectual Disability

In addition, there can be behavioral problems, strabismus , nystagmus , scoliosis and funnel chest.

literature

  • M. Klaassens, D. Morrogh, EM Rosser, F. Jaffer, M. Vreeburg, LA Bok, T. Segboer, M. van Belzen, RM Quinlivan, A. Kumar, JA Hurst, RH Scott: Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. In: European journal of human genetics: EJHG. Volume 23, number 5, May 2015, pp. 610–615, doi: 10.1038 / ejhg.2014.162 , PMID 25118028 , PMC 4402637 (free full text) (review).

Individual evidence

  1. ↑ a b c Malan's tall stature syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ V. Malan, D. Rajan, S. Thomas, AC Shaw, H. Louis Dit Picard, V. Layet, M. Till, A. van Haeringen, G. Mortier, S. Nampoothiri, S. Puseljić, L. Legeai -Mallet, NP Carter, M. Vekemans, A. Munnich, RC Hennekam, L. Colleaux, V. Cormier-Daire: Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. In: American Journal of Human Genetics . Volume 87, number 2, August 2010, pp. 189-198, doi: 10.1016 / j.ajhg.2010.07.001 , PMID 20673863 , PMC 2917711 (free full text).
  3. ^ Sotos syndrome 2.  In: Online Mendelian Inheritance in Man . (English)