Wiedemann–Rautenstrauch syndrome | |
---|---|
Other names | Neonatal progeroid syndrome |
This condition is inherited in an autosomal recessive manner. | |
Specialty | Endocrinology |
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]
Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. They have physical abnormalities including a large head ( macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin ( lipoatrophy), delayed tooth eruption, abnormal hair pattern ( hypotrichosis), beaked nose, mild to severe intellectual disabilities, and dysmorphism. [4]
This condition has been associated with mutations in the POLR3A gene. [5] This gene is located on the long arm of chromosome 10 (10q22.3). [6]
This gene encodes the largest subunit (A) of the DNA directed RNA polymerase III. This subunit includes the catalytic site of RNA polymerase III. [7]
Mutations in this gene have been associated with hypogonadotropic hypogonadism and hypomyelinating leukodystrophy with or without oligodontia. [8] [9]
Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann–Rautenstrauch syndrome, since the Marfanoid features are progressive and sometimes incomplete. [10]
MFLS is caused by mutations near the 3'-terminus of FBN1 that cause a deficiency of the protein hormone asprosin and progeroid-like symptoms with reduced subcutaneous white adipose tissue. [11]
WR was first reported by Rautenstrauch and Snigula in 1977, [12] and the earliest reports made subsequently have been by Hans-Rudolf Wiedemann in 1979, [13] Devos in 1981 [14] and Rudin in 1988. [15]
Wiedemann–Rautenstrauch syndrome | |
---|---|
Other names | Neonatal progeroid syndrome |
This condition is inherited in an autosomal recessive manner. | |
Specialty | Endocrinology |
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]
Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. They have physical abnormalities including a large head ( macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin ( lipoatrophy), delayed tooth eruption, abnormal hair pattern ( hypotrichosis), beaked nose, mild to severe intellectual disabilities, and dysmorphism. [4]
This condition has been associated with mutations in the POLR3A gene. [5] This gene is located on the long arm of chromosome 10 (10q22.3). [6]
This gene encodes the largest subunit (A) of the DNA directed RNA polymerase III. This subunit includes the catalytic site of RNA polymerase III. [7]
Mutations in this gene have been associated with hypogonadotropic hypogonadism and hypomyelinating leukodystrophy with or without oligodontia. [8] [9]
Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann–Rautenstrauch syndrome, since the Marfanoid features are progressive and sometimes incomplete. [10]
MFLS is caused by mutations near the 3'-terminus of FBN1 that cause a deficiency of the protein hormone asprosin and progeroid-like symptoms with reduced subcutaneous white adipose tissue. [11]
WR was first reported by Rautenstrauch and Snigula in 1977, [12] and the earliest reports made subsequently have been by Hans-Rudolf Wiedemann in 1979, [13] Devos in 1981 [14] and Rudin in 1988. [15]