Ablepheron macrostomia syndrome.
Two male children are reported with similar features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed.
D002648:Child; D002675:Child, Preschool; D005143:Eyelids / Q000002:abnormalities* / Q000601:surgery; D005500:Follow-Up Studies; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D008265:Macrostomia / Q000175:diagnosis* / Q000601:surgery; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis