Li–Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It was named after two American...
19 KB (2,109 words) - 01:51, 26 August 2024
syndrome of esophageal cancer with tylosis, juvenile polyposis syndrome, Li–Fraumeni syndrome, multiple endocrine neoplasia type 1/2, multiple osteochondromatosis...
51 KB (5,582 words) - 14:19, 15 July 2024
Progeria (redirect from Hutchinson Gilford Progeria Syndrome)
a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). A single gene mutation...
60 KB (6,222 words) - 19:01, 30 October 2024
Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to...
25 KB (2,759 words) - 19:52, 23 August 2024
Rett-like syndromes. Pitt-hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome, Mowat Wilson syndrome, and ATR-X syndrome. As more...
18 KB (1,866 words) - 06:07, 22 September 2024
Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria", is a rare, autosomal recessive disorder which is characterized by the appearance...
35 KB (4,518 words) - 20:22, 29 October 2024
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth...
30 KB (3,089 words) - 19:53, 23 August 2024
responsible for DNA repair Li–Fraumeni syndrome, a rare autosomal genetic disorder caused by defects in DNA repair Nijmegen breakage syndrome, a rare autosomal...
74 KB (8,734 words) - 22:32, 18 September 2024
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare...
8 KB (849 words) - 20:35, 22 July 2023
tail syndrome Limb–mammary syndrome Linburg–Comstock syndrome Li–Fraumeni syndrome Locked-in syndrome Locomotive syndrome Loeys–Dietz syndrome Loin pain...
42 KB (4,070 words) - 17:09, 1 October 2024