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Life expectancy in type IV OI is thought to be close to normal, but in type III it is lower than in the general population. [48] A 2016 study of data in Denmark's National Patient Register found that across all types of OI, all-cause mortality was three times higher, leading to a loss of around seven years in females and nine years in males. [15]
Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy; although fatal aspiration pneumonia is commonly cited as the ultimate cause of death for those with the condition. [14] [12] [3] Suicide is the cause of death in about 9% of cases. [3]
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones.
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. It is caused by a mutation in the ESCO2 gene. It is one ...
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.
Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability.Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean.
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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 ...