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Parry–Romberg syndrome (PRS) is a rare disease presenting in early childhood [1] characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. [2]
FACES syndrome is a syndrome of unique facial features , a norexia, c achexia, eye and skin anomalies. [ 1 ] It is a rare disease and estimated to occur in less than 1 in 1 million people.
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [ 5 ]
It is characterized by variable reductions in serum immunoglobulin (IgG, IgM and/or IgA) levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. [3]
However, In CFC syndrome intellectual disability and gastrointestinal problems are often more severe and pronounced. [36] [38] Costello syndrome - Like CFC syndrome, Costello syndrome has overlapping features with Noonan's Syndrome. However, the conditions can be distinguished by their genetic cause. [39] [40] Neurofibromatosis 1 (NF1) [36] [41]
Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
The cause of the rare condition is unknown but is believed to be a genetic disorder that occurs as a result of spontaneous gene mutation. Patidar's case is extremely unusual, being that none of ...
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.