Wiedemann-Rautenstrauch Syndrome (WDRTS)

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OMIM 58 264090 MeSH 45 D005317 D011371 MESH via Orphanet 46 C536423 ICD10 via Orphanet 35 E34.8

UMLS via Orphanet 75 C0406586 Orphanet 60 ORPHA3455 MedGen 43 C0406586 SNOMED-CT via HPO 70 10761101000119105 111007000 11375002 127559009 128306009 128613002 14582003 16026008 192781003 193570009 194021007 197321007 197811007 197927001 199612005 200144004 202281000 203598005 204164000 204878001 204888000 205145001 2109003 21995002 22006008 22033007 221360009 224958001 228156007 230745008 234974002 237662005 237836003 246545002 246799009 246923005 247053007 247434009 247578003 248315005 248316006 249697003 249752003 250067008 253185002 253207002 253251006 258211005 277797007 284449005 286933003 28835009 288939007 295091000119100 298181000 299462005 30721006 312894000 313307000 32958008 33168009 33927004 34486009 36440009 373650004 38086007 38101003 385522000 386661006 3961000119101 397790002 399939002 402599005 405773007 40739000 413921009 416209007 417740005 42756003 43064006 432788009 433096001 44054006 442191002 4754008 48334007 4945003 50177009 5102002 52781008 53602002 55033002 563001 56558005 56786000 57048009 57190000 58748004 59890007 61152003 61586001 62909004 64634000 64855000 64969001 68962001 708670007 72129000 76976005 78164000 78441005 7890003 80093006 84757009 86907008 88565003 88673001 89700002 90145001 9042000 91138005 91175000 93255008 95433000 95515009 95735008 more

Genetics Home Reference : ²⁶ Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected. Signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth. Affected individuals do not grow and gain weight at the expected rate before and after birth. People with this condition have distinctive facial features that give the appearance of old age. They often have a large head, a triangular face with a prominent forehead and pointed chin, a small mouth with a thin upper lip, low-set ears, and abnormal lower eyelids. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). On the head, hair is sparse and the veins stand out. Also contributing to the appearance of aging is a lack of fatty tissue under the skin (lipodystrophy), particularly in the face, arms, and legs. In addition, the skin is thin and translucent. Some affected individuals develop joint abnormalities called contractures that can limit movement.

MalaCards based summary : Wiedemann-Rautenstrauch Syndrome, also known as neonatal pseudo-hydrocephalic progeroid syndrome, is related to marfanoid-progeroid-lipodystrophy syndrome and aging, and has symptoms including action tremor and ataxia, truncal. An important gene associated with Wiedemann-Rautenstrauch Syndrome is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are FGF signaling pathway and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include skin, eye and skeletal muscle, and related phenotypes are malar flattening and hypertelorism

NIH Rare Diseases : ⁵⁴ Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.

OMIM : ⁵⁸ Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013). (264090)

UniProtKB/Swiss-Prot : ⁷⁶ Wiedemann-Rautenstrauch syndrome: An autosomal recessive, neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, hypotonia, variable mental impairment, and a progeroid appearance. Clinical features include apparent macrocephaly, sparse hair, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. Death usually occurs in early childhood but survival to third decade has been reported.

Wikipedia : ⁷⁷ Wiedemann–Rautenstrauch (WR) syndrome [ˈviːdəman ˈʁa͜ʊtən.ʃtʁa͜ʊx], also known as neonatal progeroid... more...

Clinical features from OMIM:

264090

Search Clinical Trials , NIH Clinical Center for Wiedemann-Rautenstrauch Syndrome

Search GEO for disease gene expression data for Wiedemann-Rautenstrauch Syndrome.