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Bainbridge–Ropers syndrome was first identified in 2013 and is characterized by failure to thrive, feeding problems, hypotonia, intellectual disabilities, autism, postnatal growth delay, abnormal facial features such as arched eyebrows, anteverted nares, and delays in language acquisition. BRPS is extremely rare worldwide; more than thirty ...
Wiedemann–Steiner syndrome (WSS) [2] is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone . The syndrome was originally described in 1989 [3] by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. [4]
The thigh and upper arm bones are wider than usual resulting in a dumbbell-shape while the bones of the vertebrae may be abnormal. [5] Typical abnormal facial features can be wide-set protruding eyes (hypertelorism), a small and upturned nose with a flat bridge, small jaw (micrognathia) and a cleft palate.
Reliance on facial features to identify WS may cause a misdiagnosis of the condition. Among the more reliable features suggestive of WS are congenital heart disease, periorbital fullness ("puffy" eyes), and the presence of a long, smooth philtrum. Less reliable signs of the syndrome include anteverted nostrils, a wide mouth, and an elongated ...
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
The face appears uneven, particularly in the areas of the eyes and cheeks, and the forehead appears wide and tall. [2] Because of the abnormal forehead, there is less space for the normal facial features to develop. This results in shallow eye sockets and flat cheekbones.
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. [1] The term comes from Latin for "face". [ 2 ] As a fifth declension noun, [ 3 ] facies can be both singular and plural.
Facial features of children with Smith–Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set, close together, and slanted upwards. Eyebrows are heavy with lateral extension.