Wiedemann Rautenstrauch Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Wiedemann Rautenstrauch Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Neonatal Progeroid Syndrome
- Neonatal Pseudo-Hydrocephalic Progeroid Syndrome of Wiedemann-Rautenstrauch
- Rautenstrauch-Wiedemann Type Neonatal Progeria
- Rautenstrauch-Wiedemann Syndrome
Wiedemann-Rautenstrauch syndrome (also known as neonatal progeroid syndrome) is an extremely rare genetic disorder characterized by an aged appearance at birth (neonatal progeroid appearance); growth delays before and after birth (prenatal and postnatal growth retardation); and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy), causing the skin to appear abnormally thin, fragile, and wrinkled. In addition, for reasons that are not understood, abnormal deposits of fat may accumulate around the buttocks, the areas around the genitals and the anus (anogenital area), and the area between the ribs and the hips (flanks).
Affected infants and children also have distinctive malformations of the head and facial (craniofacial) area including an unusually prominent forehead (frontal bossing) and sides of the skull (parietal bossing), causing the head to appear abnormally large (pseudohydrocephalus); unusually small, underdeveloped (hypoplastic) bones of the face and abnormally small facial features; a small "beak-shaped" nose that becomes more pronounced with advancing age; and/or sparse scalp hair, eyebrows, and/or eyelashes. Most infants and children with Wiedemann-Rautenstrauch syndrome also have unusually thin arms and legs; abnormally large hands and feet; progressive neurological and neuromuscular abnormalities; varying degrees of mental retardation; and severe delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation). In addition, in many cases, affected infants and children are prone to repeated respiratory infections that may result in life-threatening complications. Wiedemann-Rautenstrauch syndrome is inherited as an autosomal recessive trait.
Progeria Research Foundation, Inc.
2 Bourbon Street
Peabody, MA 01960
National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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