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Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti , the chubby-faced infants featured in Renaissance paintings , which were often mistakenly described as cherubs .
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
The syndrome can cause "moon face," or a puffy appearance. ... There are many signs and symptoms of Cushing syndrome. According to Mayo Clinic, signs include weight gain in the face, a fatty hump ...
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.
That said, what’s medically referred to as “moon face” can be “both a symptom and a side effect of a condition” — such as Cushing’s syndrome (which Amy Schumer was recently diagnosed ...
Char syndrome is an autosomal dominant congenital disease caused by mutations in TFAP2B gene which affects the development of the bones of the face as well as the heart and limbs. [ 2 ] [ 3 ] During embryo development , TFAP2B regulates the production of the protein AP-2β, a transcription factor that is active in the neural crest and helps ...
Symptoms include a rounded face, a fatty lump between the shoulders, and pink or purple stretch marks on the skin. It can also lead to high blood pressure, bone loss and type 2 diabetes, according ...
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 ...