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Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was 5 years old as of July 2018. [35] Doctors told his mother, Lisa van Dyk, that he was the first case of harlequin ichthyosis in South Africa, and that she has a one-in-four chance of having another child with the disease. [36]
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder.
In the U.S., life expectancy increased from 79.2 to 80.7 years in women, and from 74.1 to 76.3 years in men; The study found a global life expectancy of 72.5 years — but only 63.3 of those years ...
The following list comprises some cases of severe intellectual disability-progressive spastic diplegia syndrome (from the OMIM page for this condition): 2012: de Ligt et al. describes 2 patients from a group of 100 patients with severe intellectual disability, said 2 patients had a mutation in the CTNNB1 gene.
Life expectancy for those with Down syndrome has increased markedly since 1960 when it was very low. Depending on the severity of accompanying health problems, an individual with Down syndrome can ...
Affected infants appear normal at birth but may develop symptoms during the first year of life. Individuals with Salla disease may present with nystagmus as well as hypotonia , and may have difficulty coordinating voluntary movements ( ataxia ), reduced muscle tone and strength, and cognitive impairment . [ 5 ]
Tomiko Itooka, a 116-year-old Japanese woman who became the oldest living person in August 2024, died on Dec. 29, 2024, according to Guinness World Records.