MOMO 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 MOMO syndrome , acronym for M acrocephaly , O besitas , M entale disability , O lar abnormalities , is a very rare congenital disease with the eponymous main features.

Synonyms are: macrosomia-obesity-intellectual disability-eye abnormality syndrome; Macrosomia-Obesity-Macrocephaly-Eye Anomaly Syndrome

The name was proposed in 1993 by the authors of the first description, Brazilian doctors Danilo Moretti-Ferreira and colleagues.

Spread and cause

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . The cause is not yet known.

Clinical manifestations

Clinical criteria are:

Furthermore, abnormalities such as broad nasal bridge, broad forehead, delayed skeletal maturation are often found .

In addition, other malformations such as holoprosencephaly and cryptorchidism can occur.

Differential diagnosis

To be distinguished are u. a. other syndromes with macrosomia such as Teebi-al-Saleh-Hassoon syndrome or Perlman syndrome .

literature

  • N. Di Donato, A. Riess, K. Hackmann, A. Rump, A. Huebner, M. von der Hagen, G. Hahn, E. Schrock, S. Tinschert: Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome. In: American journal of medical genetics. Part A. Vol. 158A, No. 11, November 2012, pp. 2857-2862, doi: 10.1002 / ajmg.a.35481 , PMID 22821547 .
  • R. Wallerstein, RD Sugalski: A new case of MOMO syndrome. In: Clinical dysmorphology. Vol. 19, No. 1, January 2010, pp. 1-4, doi: 10.1097 / MCD.0b013e32831552a8 , PMID 19996736 .

Individual evidence

  1. ↑ a b c MOMO syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ D. Moretti-Ferreira, CP Koiffmann, M. Listik, N. Setian, A. Wajntal: Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome. In: American journal of medical genetics. Vol. 46, No. 5, June 1993, pp. 555-558, doi: 10.1002 / ajmg.1320460519 , PMID 8322820 .
  3. ^ S. Sharda, I. Panigrahi, RK Marwaha: MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. In: Case reports in genetics. Vol. 2011, 2011, p. 839650, doi: 10.1155 / 2011/839650 , PMID 23074680 , PMC 3447232 (free full text).

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