Bosma syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Bosma syndrome is a very rare congenital disease with a combination of Arrhinie , choanal and microphthalmia .

Synonyms are: arrhinia-choanal atresia-microphthalmia; Gifford Bosma Syndrome; English BOSMA Arhinia Microphthalmia Syndrome; BAMS; Bosma Henkin Christiansen syndrome; Congenital absence of nose and anterior nasopharynx; Ruprecht Majewski syndrome; Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism; BAM syndrome

The first description is from 1972 by the surgeon George Gifford and colleagues.

The names refer to a publication from 1981 by JF Bosma, RI Henkin, RL Christiansen and JR Herdt as well as by Klaus W. Ruprecht and Frank Majewski in 1978.

distribution

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

root cause

The disease are mutations in SMCHD1 - gene on chromosome 18 locus p11.32 based encoding a protein encoded by the SMC family (Structural Maintenance of Chromosomes).

Mutations in this gene are also involved in facial capulohumeral muscular dystrophy type 2.

Clinical manifestations

Clinical criteria are:

  • Arrhinia (complete or incomplete absence of the nose)
  • Choanal atresia
  • Microphthalmia to anophthalmia
  • Cleft palate or elevated palate

diagnosis

The diagnosis is based on clinical findings.

therapy

The treatment depends on the respective malformation.

literature

  • RJ Lemmers, N. van der Stoep, PJ Vliet et al: SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localization of variants in the ATPase domain. In: Journal of Medical Genetics . Volume 56, number 10, October 2019, pp. 693-700, doi: 10.1136 / jmedgenet-2019-106168 , PMID 31243061 , PMC 6800092 (free full text).
  • CT Gordon, S. Xue, G. Yigit et al .: De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. In: Nature genetics. Volume 49, number 2, February 2017, pp. 249-255, doi: 10.1038 / ng.3765 , PMID 28067911 .
  • B. Brasseur, CM Martin, Z. Cayci, L. Burmeister, LA Schimmenti: Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. In: American journal of medical genetics. Part A. Volume 170A, number 5, May 2016, pp. 1302-1307, doi: 10.1002 / ajmg.a.37572 , PMID 26842768 .
  • A. Slavotinek: Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia – microphthalmia. In: Human Genetics Vol. 138, pp. 831-846, 2019, doi: 10.1007 / s00439-018-1949-1 .

Individual evidence

  1. ↑ a b c Arrhinia - Choanal atresia - Microphthalmia. In: Orphanet (Rare Disease Database).
  2. ^ GH Gifford, L. Swanson, DW MacCollum: Congenital absence of the nose and anterior nasopharynx. Report of two cases. In: Plastic and reconstructive surgery. Volume 50, Number 1, July 1972, pp. 5-12, doi: 10.1097 / 00006534-197207000-00002 , PMID 5032329 .
  3. ↑ JF Bosma, RI Henkin, RL Christiansen, JR Herdt: Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. In: Journal of craniofacial genetics and developmental biology. Volume 1, Number 2, 1981, pp. 153-184, PMID 6802865 .
  4. ↑ KW Ruprecht, F. Majewski: [Familiary arhinia combined with peters' anomaly and maxillary deformities, a new malformation syndrome (author's transl)]. In: Clinical monthly sheets for ophthalmology. Volume 172, Number 5, May 1978, pp. 708-715, PMID 672092 .
  5. ↑ Bosma arhinia microphthalmia syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Facio-scapulo-humeral muscular dystrophy. In: Orphanet (Rare Disease Database).
  7. ↑ Fascioscapulohumeral muscular dystrophy 2, digenic.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ K. Mul, RJ Lemmers, M. Kriek et al: FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. In: Neurology. Volume 91, number 6, 08 2018, pp. E562 – e570, doi: 10.1212 / WNL.0000000000005958 , PMID 29980640 , PMC 6105048 (free full text).

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