Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

Abstract

Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves.

Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome

“…Abnormalities are mainly facial and rarely visceral organs are involved. Less than 20 cases of AMS are reported in the literature and to our knowledge, none of them presented with airway stenosis [1, 3, 4, 7, 8]. The patient observed in our Department underwent numerous orotracheal intubations due to previous maxillofacial surgery.…”

“…AMS is an infrequently reported congenital malformation disorder caused by mutations in the TWIST2 gene causing defects in ectoderm-derived structures [1]. Abnormalities are mainly facial and rarely visceral organs are involved.…”

“…Typical congenital malformations in ectoderm-derived structures, mainly in the face, characterize ablepharon macrostomia syndrome (AMS). They include: absent or hypoplastic eyelids, fusion defect of the mouth, abnormal ears, skin defects, normal intellectual and motor development, variable abnormalities of the nipples, genitalia, fingers, and hands, and poor growth [1]. AMS was first described in 1977 [2] and since then only few cases have been reported in the literature.…”

A case of ablepharon macrostomia syndrome requiring multidisciplinary care

“…There is currently no evidence of reduced life expectancy associated with this condition. 6 These facts illustrate that functional management is essential for patients with AMS. For optometrists, this means that visual behaviour must be assessed as well as ocular health.…”

High‐power laser as a treatment of recurrent gingival fibromatosis in a patient with a rare syndrome: A case report

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Barber-Say syndrome (BSS) is extremely rare, caused by a genetic mutation in the TWIST2 gene characterized by significant dysmorphology, affecting less than 20 people worldwide. 1 The most common oral complications, described in literature, are taurodontism, macrostomia, and retention of tooth eruption caused by gingival fibromatosis (GF). 1,2 The GF is also a rare condition and characterized by pathological, diffuse, or local gingival overgrowth.

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