" /> Nablus mask-like facial syndrome - CISMeF





Preferred Label : Nablus mask-like facial syndrome;

Symbol : NMLFS;

CISMeF acronym : NMLFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 8q22.1 deletion syndrome;

Description : Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by deletion of 3.2Mb deletion on 8q22.1;

Prefixed ID : #608156;

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03/05/2025


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