A microdeletion at 8q22.1 results in the Nablus Mask-Like Facial Syndrome (NMLFS).


Nablus is a Palestinian city in the West Bank.


Clinical features:

(1) mask-like facial appearance with tight and glistening skin

(2) happy and social personality

(3) upswept frontal hair

(4) blepharophimosis (narrow palpebral fissures in the horizontal plane with the inner canthus displaced laterally)

(5) telecanthus

(6) high-arched, sparse eyebrows

(7) abnormal ear shape

(8) abnormal dentition

(9) flat, bulbous nose tip

(10) long philtrum

(11) cheek dimples

(12) short and/or broad neck

(13) postnatal microcephaly

(14) widely spaced nipples

(15) cryptochidism in males

(16) hypoplastic genitalia

(17) joint contractures

(18) developmental delay

(19) Spigelian hernias

(20) syndactyly in fingers and/or toes

(21) "sandal gap" between first and second toes


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