Baraitser-Winter Syndrome

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

The Baraitser-Winter syndrome is a very rare congenital malformation syndrome with the main features of facial abnormalities, coloboma , pachygyria or heterotopias of the cerebral cortex , joint stiffness and intellectual disability .

Synonyms are: iris coloboma - ptosis - intellectual disability; Cerebro-fronto-facial syndrome type 3; Fryns-Aftimos Syndrome; English Pachygyria, Mental Retardation, Epilepsie, and Characteristic Facies; Cerebrooculofacial Lymphatic Syndrome; COFLS; Cerebrofrontofacila Syndrome

The names refer to the first authors of the first description from 1988 by the English pediatricians Michael Baraitser and R. M. Winter as well as to the Belgian and New Zealand human geneticists Jean-Pierre-Fryns and Salim Aftimos from 2000.

The Fryns Aftimos syndrome was originally described in adults by Nataliya Di Donato, human geneticist in Dresden , and employees in 2014 and Alain Verloes, human geneticists in Paris recognized and employees in 2015 as a single syndrome.

The disease should not be confused with the Nicolaides – Baraitser syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 50 people have been reported. The inheritance is autosomal dominant .

root cause

Depending on the underlying mutation , the following types can be distinguished:

• Type I with mutations in the ACTB - gene on chromosome 7 locus p22.1
• Type II with mutations in the ACTG1 gene on chromosome 17 locus q25.3

Clinical manifestations

Clinical criteria are:

• Facial abnormalities: hypertelorism , ptosis , wide nose, coarse facial features
• prominent sutura metopica
• Coloboma , possibly microphthalmia
• Pachygyria , heterotopias , often also epilepsy and microcephaly , sometimes lissencephaly
• Joint stiffening of the large joints
• Short stature

diagnosis

In addition to the clinical examination, the diagnosis is based on the genetic detection of the mutations. Medical imaging can demonstrate changes in the surface of the brain prenatally .

Differential diagnosis

The following are to be distinguished:

• Noonan's Syndrome
• Teebi-type hypertelorism
• CHARGE syndrome
• Norman Roberts Syndrome

literature

• TM Yates, CL Turner, HV Firth, J. Berg, DT Pilz: Baraitser-Winter cerebrofrontofacial syndrome. In: Clinical genetics. [Electronic publication before printing] September 2016, doi: 10.1111 / cge.12864 , PMID 27625340 (review).
• N. Di Donato, A. Kuechler, S. Vergano, W. Heinritz, J. Bodurtha, SR Merchant, G. Breningstall, R. Ladda, S. Sell, J. Altmüller, N. Bögershausen, AE Timms, K. Hackmann , E. Schrock, S. Collins, C. Olds, A. Rump, WB Dobyns: Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. In: American journal of medical genetics. Part A. Volume 170, No. 10, October 2016, pp. 2644–2651, doi: 10.1002 / ajmg.a.37771 , PMID 27240540 .

Web links

• Genetics Home Reference
• Right diagnosis

Individual evidence

1. ↑ ^{a b c d e} Baraitser-Winter Syndrome. In: Orphanet (Rare Disease Database).
2. ↑ M. Baraitser, RM Winter: Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. In: Journal of medical genetics. Vol. 25, No. 1, January 1988, pp. 41-43, PMID 3351890 , PMC 1015421 (free full text).
3. ↑ JP Fryns, S. Aftimos: New MR / MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes. In: Journal of medical genetics. Volume 37, No. 6, June 2000, pp. 460-462, PMID 10928857 , PMC 1734613 (free full text).
4. ↑ N. Di Donato, A. Rump, R. Koenig, VM Der Kaloustian, F. Halal, K. Sonntag, C. Krause, K. Hackmann, G. Hahn, E. Schrock, A. Verloes: Severe forms of Baraitser -Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. In: European Journal of Human Genetics : EJHG. Volume 22, No. 2, February 2014, pp. 179-183, doi: 10.1038 / ejhg.2013.130 , PMID 23756437 , PMC 3895648 (free full text).
5. ↑ A. Verloes, N. Di Donato, J. Masliah-Planchon, M. Jongmans, OA Abdul-Raman et al .: Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. In: European Journal of Human Genetics : EJHG. Volume 23, No. 3, March 2015, pp. 292-301, doi: 10.1038 / ejhg.2014.95 , PMID 25052316 , PMC 4326722 (free full text).
6. ^ Baraitser-Winter syndrome 1.  In: Online Mendelian Inheritance in Man . (English)
7. ^ Baraitser-Winter syndrome 2.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !