3M syndrome

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Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The 3M syndrome is a very rare congenital skeletal dysplasia with short stature already onset in the womb , with a conspicuous head and face shape as well as changes in the ribs and vertebral bodies.

Synonyms are:

  • Dolichospondylar dysplasia
  • Gloomy Syndrome
  • Le Merrer Syndrome

The designation 3M refers to the first letters of the family names of the first three authors in the first description from 1975.

distribution

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

root cause

There are currently three types of genetic changes:

  • 3M syndrome 1 with mutations in the CUL7 gene at location 6p21.1, which encodes the Cullin 7 protein
  • 3M syndrome 2 with a mutation in the OBSL1 gene at location 2q35
  • 3M syndrome 3 with a mutation in the CCDC8 gene at location 19q13.32

Clinical manifestations

Criteria for all types are:

Proportional pre- and postnatal short stature , face characteristic at birth ('gloomy facies'), relatively large head, dolichocephaly , balcony forehead, triangular face with a pointed chin , upturned (anteverted) nostrils, full lips, thick eyebrows, long philtrum and a midface hypoplasia.

Other signs are a short neck, prominent trapezius muscles, square shoulders, a short thorax with a funnel or chicken breast , hyperlordosis , abnormally increased mobility and shortened little fingers.

diagnosis

The disease can be imaging, e.g. B. sonographically, are suspected already in the womb.

The X-ray shows narrowing of the long tubular bones and ribs as well as shortened vertebral bodies.

Differential diagnosis

The floating harbor syndrome is to be distinguished .

therapy

Growth hormone treatment to increase final height has been suggested.

Due to the short neck, problems can arise during anesthesia.

literature

  • J. Spranger, JM Opitz, A. Nourmand: A new familial intrauterine growth retardation syndrome the "3-M syndrome". In: European Journal of Pediatrics. Volume 123, Number 2, September 1976, pp. 115-124, ISSN  0340-6199 . PMID 976277 .
  • C. Huber, A. Munnich, V. Cormier-Daire: The 3M syndrome. In: Best practice & research. Clinical endocrinology & metabolism. Volume 25, Number 1, February 2011, pp. 143-151, ISSN  1878-1594 . doi: 10.1016 / j.beem.2010.08.015 . PMID 21396581 .
  • M. Holder-Espinasse, M. Irving, V. Cormier-Daire: Clinical utility gene card for: 3-M syndrome - update 2013. In: European journal of human genetics: EJHG. Volume 22, Number 4, April 2014, pp., ISSN  1476-5438 . doi: 10.1038 / ejhg . 2013.156 . PMID 23900270 . PMC 3953895 (free full text).

Individual evidence

  1. ↑ a b c d e 3M syndrome. In: Orphanet (Rare Disease Database).
  2. ^ JD Miller, VA McKusick, P. Malvaux, S. Temtamy, C. Salinas: The 3-M syndrome: a heritable low birthweight dwarfism. In: Birth defects original article series. Volume 11, Number 5, 1975, pp. 39-47, ISSN  0547-6844 . PMID 1218233 .
  3. ↑ 3M syndrome.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ 3M syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ 3M syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ F. Meo, V. Pinto, V. D'Addario: 3-M syndrome: a prenatal ultrasonographic diagnosis. In: Prenatal diagnosis. Volume 20, Number 11, November 2000, pp. 921-923, ISSN  0197-3851 . PMID 11113897 .
  7. ↑ AG Tsiotou, A. Malisiova, E. Kalliardou: Anesthesia and orphan disease: the child with 3M syndrome. In: European journal of anaesthesiology. Volume 29, Number 12, December 2012, pp. 598-600, ISSN  1365-2346 . doi: 10.1097 / EJA.0b013e32835a9a6c . PMID 23080434 .