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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.
Rare, only 100 cases have been described in medical literature Deaths GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder that is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.
Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. [1]
very rare, only 78 cases have been described in medical literature Deaths GATAD2B-associated neurodevelopmental disorder is a rare genetic neurodevelopmental disorder which is characterized by severe intellectual disabilities , speech delays, hypotonia and facial dysmorphia .
Alazami syndrome is a rare autosomal recessive genetic disorder characterized by short stature, severe mental retardation, speech delay, skeletal deformities, intellectual disability, and distinctive facial features (facial dysmorphisms).
Any disease that impacts 200,000 people or less in the U.S. is classified as a rare disease. The rare disease community is a close-knit group of patients, parents and specialists determined to ...
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism ...
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