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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]
3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. [1] The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. [2]
Other diseases have similar characteristics to Treacher Collins syndrome. In the differential diagnosis, one should consider the acrofacial dysostoses. 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 following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as ...
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1]
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.