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ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. [3] Other frequent symptoms observed in individuals with ICF syndrome include intellectual disability, recurrent and prolonged respiratory infections, and integumentary and digestive system infections.
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.
The facial appearance resembles that of Treacher Collins syndrome, but additional limb abnormalities occur in those persons. Examples of these diseases are Nager syndrome and Miller syndrome. [3] The oculoauriculovertebral spectrum should also be considered in the differential diagnosis.
Neurological abnormalities are common. Roughly 45% of people with Parry–Romberg syndrome also have trigeminal neuralgia (severe pain in the tissues supplied by the ipsilateral trigeminal nerve , including the forehead, eye, cheek, nose, mouth and jaw) and/or migraine (severe headaches that may be accompanied by visual abnormalities, nausea ...
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome affects roughly one in 32,000 ...
Nablus mask-like facial syndrome (Nablus syndrome) is a rare (13 cases described by 2018) genetic condition. [1] It is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected. [2] This syndrome typically presents itself in infants, specifically newborns. [3]
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.
Prosopometamorphopsia (PMO [1]), also known as demon face syndrome, [2] is a visual disorder characterized by altered perceptions of faces. In the perception of a person with the disorder, facial features are distorted in a variety of ways including drooping, swelling, discoloration, and shifts of position.