Summary
Ablepharon Macrostomia Syndrome (AMS) is characterised by the association of facial, genital and cutaneous features with delayed language developement. It is a rare syndrome and has been described in less than 15 patients, only one of which was female. Facial features include absent eyelids, eyebrows and eyelashes, low nasal bridge, rudimentary external ears, hypoplastic and antiverted nostrils, abnormally shaped nose, absence of the zygomatic arches, as well as fusion defects of the mouth resulting in an enlarged fish-like mouth. Some patients have persistent visual problems, often related to early corneal exposure. Ambiguous genitalia is associated with ventral hernia, together with absent or rudimentary nipples. The skin is course and dry, with redundant folds and an absence of lanugo. Hearing loss, poor hair growth and growth retardation are also chronic problems. Finger contractures, partial cutaneous syndactyly with camptodactyly and bone anomalies (including short metacarpal bones) have also been reported. Developemental impairement with expressive language is present in two-thirds of patients but is usually mild. The mutation responsible for AMS has not yet been identified but, if mendelian, it would seem most likely that AMSis in fact an autosomal dominant disorder. AMS is distinct from Barber-Say syndrome. Genital abnormalities are much more severe in AMS than in Barber-Say syndrome. Plastic surgery may permit reconstruction of the eyelids, external ears and mouth and zygomatic arches may be remodelled by implantation of subcutaneous prostheses. Chin and breast hypoplasia can also be treated by plastic surgery. *Author: Orphanet (April 2005)