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Cherubism has also been found combined with other genetic disorders including Noonan syndrome, Ramon syndrome, and fragile X syndrome. [8] Mutations of the SH3BP2 gene are only reported in 75% of Cherubism cases. [3] The mutation of the SH3BP2 gene is believed to increase production of over active proteins from this gene.
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible ...
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. Excessive growth often starts in infancy and continues into the early teen years.
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability. Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean.
"Cortisol face" is a viral term to describe facial swelling, allegedly caused by high levels of cortisol. Can stress cause a puffy face? Experts weigh in and debunk the condition.
The appearance of affected individuals is characteristic, featuring ptosis, large ears, supraorbital ridge, short stature (in approximately half of affected individuals), gynecomastia, deposits of abdominal fat, swollen cheeks and eyelids, short toes, and tapered fingers. Kyphosis or scoliosis may also be present. [1] [2] [3]
Image credits: lizzobeeating “Sometimes, it can have the effect of actually making a person look older — because the fat in our cheeks is what gives us a more youthful look.”