Diseases title

Ablepharon macrostomia syndrome )

Orpha Number: 920

Ablepharon macrostomia syndrome (AMS) is characterised by the association of facial, genital, and cutaneous features with delayed language development. 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 anteverted 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 coarse 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. Developmental impairment with delayed 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 AMS is in fact an autosomal dominant disorder. AMS is distinct from Barber-Say syndrome. Common features of the two syndromes are macrostomia, abnormal ears and nose, hypoplastic nipples, sparse eyebrows and eyelashes, and redundant skin. Distinguishing features include ablepharon in AMS versus ectropion in Barber-Say syndrome and marked hypertrichosis in 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.
source: Orphanet