Nablus mask-like facial syndrome

Synonyms

2

Overview

Nablus mask-like facial syndrome is a rare microdeletion syndrome, characterized by a mask-like facial appearance.

In 2000, Teebi, was the first to report on a 4 years old boy affected with NMFLS. Since then, a handful of additional patients have been reported.

Symptoms

Facial features with narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pattern; permanently bent fingers and toes (camptodactyly); joint deformities (contractures) that restrict movement in the hands and feet; unusual dentition; mild developmental delay; undescended testicles in males (cryptorchidism); and a happy disposition.

Causes

Microdeletion at chromosome 8q22.1.

Prevention

Genetic counselling may help in families where the condition appeared previously. 

Diagnosis

Clinical picture plus genetic methods. This microdeletion can be identified by comparative genomic hybridisation (CGH) microarray.

Prognosis

Raas-Rothschild et al. (2009) reexamined the boy with Nablus mask-like facial syndrome originally described by Teebi (2000), then 10 years of age. On examination he was an interactive and apparently intelligent boy. His psychomotor development was normal, and his cryptorchidism had been surgically repaired. His height was at the 5th centile with a head circumference at the 2nd centile, and his ear length was 3rd centile with an abnormal shape and unfolded helix; he also had blepharophimosis, telecanthus, flat broad nasal bridge, bluish- and tight-appearing skin around the nose, upsweep of frontal hair, and bilateral Spigelian hernias of the abdominal wall. He had an unaffected twin sister and healthy, non-consanguineous parents.

Treatment

Surgical treatment of symptoms such as cryptorchidism, camptodactyly or joint deformities. 

Resources

[1] https://rarediseases.info.nih.gov/diseases/4722/nablus-mask-like-facial-syndrome

[2] Raas-Rothschild A - The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26.

[3] http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=18009&Disease_Disease_Search_diseaseGroup=nablus&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Nablus-mask-like-facial-syndrome&title=Nablus-mask-like-facial-syndrome&search=Disease_Search_Simple

[4] http://www.cags.org.ae/ctga/details.aspx?id=96&pg=106&se=Latest#epidemiology