Ablepharon-macrostomia Syndrome

Summarized by Plex Health
Last Updated: 10 May 2022
a case report of ablepharon-macrostomia syndrome with amniotic membrane grafting. "a case report of ablepharon-macrostomia syndrome with amniotic membrane grafting.", by Feinstein E, Traish AS, Aakalu V, Kassem IS. F1: a, b External photograph of a 5-day-old infant with lack of eyelids, eyelashes and eyebrows. There is significant injection and chemosis in both eyes with bilateral opacification and ulceration of the corneas. Multiple anomalies...

Ablepharon-macrostomia syndrome is unusual congenital disease identified by lacking or underdeveloped eyelids and a broad mouth. AMS has been grouped within the category of diseases called ectodermal dysplasias yet since many characteristics involve cells that are not originated from the ectoderm, it would be better to specify AMS as an authentic malformation syndrome. AMS is caused by changes in the TWIST2 gene. Mutations in TWIST2 also cause the Barber Say syndrome and Setleis syndrome, which have very comparable features. Other potential eye concerns include failure to generate rips; repeated involuntary eye activities; unequal, inward inconsistency of the eyes; and/or full or partial splitting up of the retina, the nerve-rich membrane lining the inner layer of the back of the eye, from membranes in the external layer. Babies affected with AMS may have additional, particular craniofacial features. The cheeks superolateral to the corners of mouth may bulge; a sign called cheek pads. Zygomotic arcs are both bony arches extending from the lower portion of the orbits of the eyes, across the prominence of the cheekbones to the bones forming part of the lower skull. Unusually formed genitalia can consist of undescended testis, urethral opening on the bottom of the penis, and a small penis in males or small labia minora in ladies. At the extremities, it prevails to locate syndactyly and camptodactyly; the skin over the hands may be unusually loose, the fingers might be completely flexed because of limited skin over the finger joints. While physical growth is normally undisturbed, cognitive advancement might be delayed.

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