Search results
Results from the WOW.Com Content Network
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome , people with CCA typically have an arm span that is greater than their height and very long fingers and toes . [ 2 ]
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...
Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly that is characterized by heart abnormalities, cranio-facial dysmorphia, and intellectual disabilities. No new cases have been reported since 1968.
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
Life expectancy is short and many children with lissencephaly will die before the age of 10. Some children with lissencephaly will be able to roll over, sit, reach for objects, and smile socially. Aspiration and respiratory disease are the most common causes of illness or death. [27] In the past, life expectancy was said to be around two years ...
The disease is expressed at a rate of 80 to 100% of all affected. Studies of multiple generations of families with the gene found that all boys developed cherubism, but 30–50% of girls show no symptoms. [7] The cause of cherubism is believed to be from a mutation of gene of SH3BP2.
Despite her condition, McGill was determined to live life fully. In the 1970s, according to Public Health Reports , life expectancy for people with sickle cell disease was less than 20 years.
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.