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;
Origin ID : 608156;
UMLS CUI : C1842464;
CISMeF manual mappings
Currated CISMeF NLP mapping
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)