Nablus Mask-Like Facial Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

8q22.1 microdeletion syndrome, 8q22.1 microdeletion syndrome (disorder), CHROMOSOME 8q22.1 DELETION SYNDROME

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Introduction

A rare microdeletion syndrome associated with a distinct facial appearance. It has been reported in four unrelated patients. A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant.

100 Clinical Results associated with Nablus Mask-Like Facial Syndrome

100 Translational Medicine associated with Nablus Mask-Like Facial Syndrome

0 Patents (Medical) associated with Nablus Mask-Like Facial Syndrome

Literatures (Medical) associated with Nablus Mask-Like Facial Syndrome

01 Jun 2024·European Journal of Medical Genetics

Atlantoaxial dislocation in the setting of NMLFS

Article

Author: Belal, Ahmed ; Wilson, Saul ; Witten, Andrew J ; Abughofah, Yousaf

BACKGROUNDNablus mask-like facial syndrome (NMFLS) is an extremely rare genetic syndrome characterized by facial dysmorphia as well as developmental delay. In the present report we describe a potential association between non-traumatic atlanto-occipital dislocation and NMFLS in an 11-year old female lacking typical facial features of NMFLS.CASE DESCRIPTIONAn 11-year-old female with autism presented with symptoms of persistent headache and vomiting as well as neck stiffness. Further investigation and CT imaging revealed congenital malformation of the skull base and craniocervical junction with complete posterior subluxation of the left occipital condyle. MRI findings later corroborated the findings on CT.CONCLUSIONSThe patient was successfully treated with occipitocervical fusion. The findings in this case suggest the possibility that atlanto-occipital instability and generalized occipitocervical may be associated with NMFLS.

01 May 2023·The Journal of clinical pediatric dentistry

Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review.

Review

Author: Derelioglu, Sera ; Bas, Aybike ; Sarac, Fatma

Nablus mask-like facial syndrome (NMLFS) (OMIM: 608156) is an extremely rare genetic syndrome first reported by Ahmad Teebi in 2000. Although it is a rare condition, it is characterized by distinctive facial features such as, expressionless facial appearance, tight, glistening facial skin, low anterior hairline, sparse eyebrows, small palpebral fissures (blepharophimosis), hypertolerism, bulbous nose with prominent columella, abnormally short nose and flat nasal bridge, abnormal ear configuration, bilateral longitudinal cheek dimples, everted lower lip, long philtrum, and maxillary hypoplasia. In addition, a happy and friendly disposition is considered to be the common symptom of this syndrome. Previous studies revealing the intraoral findings of this rare symptom are inadequate and the present report is the first one that presents a dental case involving Nablus syndrome in detail. The aim of this report is to contribute to the current literature through our oral findings in an NMFLS patient, presented at our clinic with toothache and through our treatment approach.

12 Jul 2018·Case Reports in Medicine

8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report

Author: Maggio, Roberta ; Pironti, Erica ; Cucinotta, Francesca ; Di Rosa, Gabriella ; Alquino, Maria Ausilia ; Gagliano, Antonella ; Galati, Cecilia

Microduplication of chromosome 8q22.1 is mainly associated to Leri’s pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri’s pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.

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Nablus Mask-Like Facial Syndrome

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