Diseases & Conditions
Wiedemann Rautenstrauch Syndrome
Synonyms of Wiedemann Rautenstrauch Syndrome
General Discussion
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.
.
Organizations related to Wiedemann Rautenstrauch Syndrome
For a Complete Report
- Neonatal Progeroid Syndrome
- Neonatal Pseudo-Hydrocephalic Progeroid Syndrome of Wiedemann-Rautenstrauch
- Rautenstrauch-Wiedemann Syndrome
- Rautenstrauch-Wiedemann Type Neonatal Progeria
Disorder Subdivisions
General Discussion
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.
.
Organizations related to Wiedemann Rautenstrauch Syndrome
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/ - National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/ - Progeria Research Foundation, Inc.
532 Lowell Street
Peabody MA 01961-3453
Phone #: 978-535-2594
800 #: --
e-mail: info@progeriaresearch.org
Home page: http://www.progeriaresearch.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
GÜNCEL SAĞLIK HABERLERİ
-
Yaşlanmaya Karşı Koruyucu 3 Doğal Aktif Madde
16 Nisan 2018, Pazartesi -
Demir Eksikliğini Önlemenin Kolay Yolları
19 Mart 2018, Pazartesi -
Hamilelikte bitkisel ilaç kullanılabilir mi?
07 Mart 2018, Çarşamba -
Saç Dökülmesi İçin Çözüm Önerileri
28 Şubat 2018, Çarşamba -
Ozon Yağının Bilinmeyen Etkileri
08 Şubat 2018, Perşembe
Popüler Konular (Obezite)
İçerik bulunamadı.
İçerik bulunamadı.
