Baby girl born with permanent smile due to bilateral macrostomia; know more about the rare condition

An Australian baby girl’s parents have taken to social media to raise awareness about bilateral macrostomia, a rare condition that appears like a permanent smile on her face. Born in December 2021, Ayla Summer Mucha was diagnosed with the condition in the womb itself. In this condition, the corners of the mouth do not fuse together properly.

Take a look.

Why does it happen?

Bilateral macrostomia is a rare facial deformity in which clefts forms on either or both sides of the face when a baby is born. “They are most commonly seen on the right cheek and have a higher rate of occurrence in males. It’s an extremely rare condition and on average occurs only once in every 150,000 to 300,000 live births. The clefts result from improper development and fusion of the facial bones and jaw,” said Dr Shuchin Bajaj, founder director, Ujala Cygnus Group of Hospitals.

The etiopathogenesis of bilateral macrostomia is unclear, according to National Center for Biotechnology Information (NCBI). Although over 50 per cent of the reported cases of bilateral macrostomia are isolated, this condition presents a therapeutic challenge, it states.

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Issue and diagnosis

There can be issues with feeding in early life, chewing, and abnormal facial appearance as the individual grows. “The problem arises approximately during the seventh week of embryonic development when the corners of the mouth and cheek are formed by the first branchial arch. In any case, treatment is possible only after birth, where surgery remains the mainstay,” explained Dr Pradeep Mahajan, Regenerative Medicine Researcher, StemRx Bioscience Solutions Pvt. Ltd., Navi Mumbai.

Treatment

Timing is crucial during treatment. Any soft tissue reconstruction is advised during pre-school ages, and bony reconstructions at older ages. “This is because the development of the head and face (including upper and lower jaws) continues till about 5-6 years of age after birth; therefore, any mid-face reconstructions are advised after six years and those of the jaws are advised during the adolescence period. Understanding the anatomical landmarks and preparing to regain aesthetics and function is crucial—however, the surgery is not entirely complicated. Success can be achieved and patients attain normal facial features and functions with minimal scarring,” said Dr Mahajan.

Treatment is also possible through a regenerative approach using adipose-derived stem cells and certain growth factors that help in filling the defects and ultimately in functional enhancement, the Dr Mahajan said.

“Treatment can be performed as monotherapy or in combination with surgery for enhanced outcomes. This treatment has been successfully applied for facial clefts and other congenital anomalies like those in Treacher-Collins syndrome. The principle of this therapy is that stem cells are the master cells that help in the development of various structures of our body. We can utilise these in the post-natal and adult life as well to correct abnormalities and diseases in a minimally invasive manner. The sources of cells and growth factors is from the patient’s own body; thus, the therapy is safe and effective,” explained Dr Mahajan.

Dr Bajaj shared that surgery done at a young age is advisable to “avoid unwanted anxiety and psychological impact on both child and the family as well”. “It also helps correct sialorrhea, speech problems, and compromised chewing ability. The aim of surgery is to place symmetric lip commissures with normal contour and minimally visible scar,” Dr Bajaj explained.

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Baby girl born with permanent smile due to bilateral macrostomia; know more about the rare condition

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