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Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, [1] is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR. [2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. [3]
Zespół Wiedemanna-Rautenstraucha (ang. Wiedemann-Rautenstrauch syndrome, neonatal progeroid syndrome), (pol. syndrom progerii noworodkowej) – rzadki zespół wad wrodzonych.
6 lis 2019 · Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in POLR3A, a gene encoding for a subunit of RNA polymerase III.
6 sie 2024 · Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a rare genetic disorder. It is characterized by an aged appearance at birth (old man look), growth delays that start before birth (prenatal) and continue after birth, as well as a deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy).
6 lis 2019 · Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins,...
6 sie 2022 · NPS is a rare genetic syndrome that causes an aged appearance at birth and other symptoms. Learn from the NIH, a personal story, and the foundation's mission and vision.
Wiedemann-Rautenstrauch syndrome. A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.
