Nicolaides – Baraitser Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Nicolaides – Baraitser syndrome is a very rare congenital disease with the main characteristics short stature , hair loss, malformations of the fingers , epilepsy and severe mental retardation .
Synonyms are: NCBRS; English Sparse Hair And Mental Retardation ; NBS
The name refers to the authors of the first description from 1993 by the Cypriot neuropediatrist Paola Nicolaides and the British human geneticist Michael Baraitser .
The disease is not to be confused with Baraitser-Winter syndrome .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The disease are new mutations in SMARCA2- gene at the locus 9p24.3 based.
Clinical manifestations
Clinical criteria are:
- Short stature
- Hypotrichosis with sparse scalp hair
- Facial abnormalities with microcephaly
- Convulsions and severe mental retardation
- Brachydactyly with cone epiphyses , accentuated interphalangeal joints and distal phalanges due to decreased subcutaneous adipose tissue
Differential diagnosis
The Coffin-Siris syndrome is to be distinguished .
literature
- NC Bramswig, HJ Lüdecke, Y. Alanay, B. Albrecht, A. Barthelmie, K. Boduroglu, D. Braunholz, A. Caliebe, KH Chrzanowska, JC Czeschik, S. Endele, E. Graf, E. Guillén-Navarro, P. Kiper, V. López-González, I. Parenti, J. Pozojevic, GE Utine, T. Wieland, FJ Kaiser, B. Wollnik, TM Strom, D. Wieczorek: Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. In: Human genetics. Vol. 134, No. 6, June 2015, pp. 553-568, doi: 10.1007 / s00439-015-1535-8 , PMID 25724810 .
- D. Wolff, S. Endele, S. Azzarello-Burri, J. Hoyer, M. Zweier, I. Schanze, B. Schmitt, A. Rauch, A. Reis, C. Zweier: In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. In: Molecular syndromology. Vol. 2, No. 6, April 2012, pp. 237-244, PMID 22822383 , PMC 3362220 (free full text).
Individual evidence
- ↑ a b Mental retardation - sparse hair - brachydactyly. In: Orphanet (Rare Disease Database).
- ↑ a b c O. Abdul-Rahman: Nicolaides-Baraitser Syndrome , PMID 26468571 .
- ↑ P. Nicolaides, M. Baraitser: An unusual syndrome with mental retardation and sparse hair. In: Clinical dysmorphology. Vol. 2, No. 3, July 1993, pp. 232-236, PMID 8287185 .
- ↑ Nicolaides-Baraitser syndrome. In: Online Mendelian Inheritance in Man . (English)
