ablepharon-macrostomia syndrome


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ablepharon-macrostomia syndrome

An extremely rare autosomal recessive condition (OMIM:200110) characterised by absent eyelids, eyebrows and eyelashes; fusion defects of the mouth; rudimentary external ears; ambiguous genitalia; absent or rudimentary nipples; coarse, dry skin with redundant skin folds; and delayed development of expressive language.