Nablus mask-like facial syndrome

Classification according to ICD-10
Q93.5	Other deletions of a part of a chromosome
ICD-10 online (WHO version 2019)

The Nablus-mask-like-facial syndrome is one of the monosomies or microdeletion syndromes and is a very rare congenital disease with the main features of a mask face .

Synonyms are: microdeletion syndrome 8q22.1; Monosomy 8q22.1; Chromosome 8q22.1 deletion syndrome .

The name refers to the city of Nablus in the Palestinian Autonomous Territories and was coined in 2000 by the first person to describe it, the human geneticist Ahmad S. Teebi.

distribution

The frequency is given as less than 1 in 1,000,000. So far, four unrelated patients have been described.

root cause

The disease is based on a microdeletion in or monosomy of chromosome 8 , locus q22.1.

Clinical manifestations

Clinical criteria are:

Manifestation in the neonatal period or in infancy
Mask-like face with blepharophimosis , shiny, tense facial skin, flat, wide nose, long philtrum , dysplasia of the auricles, noticeable scalp hair
Camptodactyly , joint contractures
Cryptorchidism

literature

SS Jamuar, H. Duzkale, N. Duzkale, C. Zhang, FA High, L. Kaban, S. Bhattacharya, B. Crandall, S. Kantarci, JM Stoler, AE Lin: Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. In: American journal of medical genetics. Part A. Vol. 167, No. 6, June 2015, pp. 1400–1405, doi: 10.1002 / ajmg.a.36848 , PMID 25846266 .
S. Mazziotti, T. D'Angelo, G. Ascenti, A. Blandino: Facial abnormalities in Nablus mask-like facial syndrome: multidetector computed tomography findings. In: Journal of oral and maxillofacial surgery: official journal of the American Association of Oral and Maxillofacial Surgeons. Vol. 72, No. 8, August 2014, pp. 1579–1584, doi: 10.1016 / j.joms.2014.01.013 , PMID 24815794 .
S. Jain, P. Yang, SA Farrell: A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. In: European journal of medical genetics. Vol. 53, No. 2, 2010 Mar-Apr, pp. 108-110, doi: 10.1016 / j.ejmg.2009.12.006 , PMID 20074678 .
JT Shieh, S. Aradhya, A. Novelli, MA Manning, AM Cherry, J. Brumblay, CD Salpietro, L. Bernardini, B. Dallapiccola, HE Hoyme: Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. In: American journal of medical genetics. Part A. Vol. 140, No. 12, June 2006, pp. 1267-1273, doi: 10.1002 / ajmg.a.31262 , PMID 16691576 .
CD Salpietro, S. Briuglia, L. Rigoli, MV Merlino, B. Dallapiccola: Confirmation of Nablus mask-like facial syndrome. In: American journal of medical genetics. Part A. Vol. 121A, No. 3, September 2003, pp. 283-285, doi: 10.1002 / ajmg.a.20280 , PMID 12923873 .

Web links

Right diagnosis

Individual evidence

↑ ^a ^b ^c Nablus mask-like facial syndrome. In: Orphanet (Rare Disease Database).
^ AS Teebi: Nablus mask-like facial syndrome. In: American journal of medical genetics. Vol. 95, No. 4, December 2000, pp. 407-408, PMID 11186902 .
^ Nablus mask-like facial syndrome. In: Online Mendelian Inheritance in Man . (English)
^ Rare Diseases

[Orpha-1] Nablus mask-like facial syndrome. In: Orphanet (Rare Disease Database).

[2] AS Teebi: Nablus mask-like facial syndrome. In: American journal of medical genetics. Vol. 95, No. 4, December 2000, pp. 407-408, PMID 11186902 .

[3] Nablus mask-like facial syndrome. In: Online Mendelian Inheritance in Man . (English)

[rare-4] Rare Diseases