Ablepharon macrostomia syndrome

Ablepharon macrostomy syndrome (AMS) describes a syndrome in which facial, genital and cutaneous symptoms as well as delayed speech development occur in distinct combinations. The syndrome has been reported in fewer than 15 patients, including only one female patient. The age of onset is already in the neonatal period or even prenatal.

Facial abnormalities include the absence of eyebrows, eyelids and eyelashes, rudimentary ears, a flat root of the nose, a generally abnormal nasal shape, hypoplastic nasal and anteverted nares, missing zygomatic arches, and split defects leading to a large, fish-like mouth.

The exposure of the cornea often leads to persistent vision problems. The patients also suffer from a very dry, rough skin with no hair. Patients may have intermediate genitalia, ventral hernias, and missing / hypoplastic nipples.

Other symptoms include slower growth, hearing loss, lack of hair growth, finger contractures, bone abnormalities and syndactyly. A mostly mild developmental disorder with language limitations affects 2/3 of the patients.

A molecular cause is not yet known, in the case of a simple hereditary inheritance, the disease is believed to be inherited as an autosomal dominant trait.