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Symptoms are not apparent until they are 1 year. Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype.
The mortality rate of early infantile Krabbe disease is 90% before age two. Later onset of symptoms is associated with longer life expectancy, with older children generally surviving two to seven years after the initial diagnosis. [22] Krabbe disease occurs in about one in 100,000 births. [23]
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). [8] A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together.
During the next 15 years the underlying defect remained unknown but since the plasmaprotein transferrin was underglycosylated (as shown by e.g. isoelectric focusing), the new syndrome was named carbohydrate-deficient glycoprotein syndrome (CDGS) [1] Its "classic" phenotype included psychomotor retardation, ataxia, strabismus, anomalies (fat ...
Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. [ 6 ] [ 5 ] Fewer than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9 -gene that codes for the ABCC9-protein.
Nearly 2.3 million people are estimated to be living with multiple sclerosis around the world, but when Montel Williams received his official diagnosis back in 1999, not much was known about the ...
Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, farsightedness, microphthalmia, and skeletal abnormalities. [1] This subtype of Kenny–Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.
The syndrome was first identified by Jeremy Allgrove and colleagues in 1978; since then just over 100 cases have been reported. [3] The syndrome is called Triple-A due to the manifestation of the illness which includes achalasia (a dysfunction of the esophagus), addisonianism ( adrenal insufficiency of primary type), and alacrima (insufficiency ...