Wiedemann-Rautenstrauch Syndrome (WDRTS)

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OMIM® 57 264090 OMIM Phenotypic Series 57 PS176670 MeSH 44 D005317 D011371 MESH via Orphanet 45 C536423 ICD10 via Orphanet 33 E34.8

UMLS via Orphanet 72 C0406586 Orphanet 58 ORPHA3455 MedGen 41 C0406586 SNOMED-CT via HPO 68 111007000 111266001 11375002 127559009 128306009 128613002 14447001 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 246800008 246923005 247053007 247434009 247578003 248315005 248316006 249697003 249752003 250067008 253184003 253185002 253207002 253251006 258211005 26544005 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 41581000 416209007 42756003 43064006 432788009 44054006 442191002 4754008 48334007 4945003 50177009 5102002 52781008 53602002 55033002 563001 5639000 56558005 56731001 56786000 57048009 57190000 58748004 61152003 62909004 64217002 64634000 64855000 64969001 68962001 708670007 72129000 76976005 78164000 78441005 7890003 80093006 84757009 86907008 88565003 88673001 90145001 91138005 91175000 93255008 95515009 95735008 more

MedlinePlus Genetics : ⁴³ 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.In people with Wiedemann-Rautenstrauch syndrome, the spaces (fontanelles) between the skull bones (that are noticeable as "soft spots" on the heads of infants) are larger than normal. The fontanelles normally close in early childhood, but they may remain open throughout life in people with this condition. Many affected infants are born with teeth (natal teeth), which fall out a few weeks after birth; however, some or all of their permanent (adult) teeth may never develop (hypodontia).In some individuals with Wiedemann-Rautenstrauch syndrome, movement problems, such as difficulty with coordination and balance (ataxia) or involuntary rhythmic shaking (tremor), appear in childhood and worsen over time.The life expectancy in Wiedemann-Rautenstrauch syndrome is variable. While some affected individuals do not survive past infancy, others live into young adulthood.

MalaCards based summary : Wiedemann-Rautenstrauch Syndrome, also known as neonatal pseudo-hydrocephalic progeroid syndrome, is related to progeroid syndrome and osteoporosis, 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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and FGF signaling pathway. Affiliated tissues include eye, bone and heart, and related phenotypes are frontal bossing and hypertelorism

GARD : ²⁰ 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® : ⁵⁷ 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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Wiedemann-Rautenstrauch (WR) syndrome ([ˈviːdəman ˈʁa͜ʊtən.ʃtʁa͜ʊx]), also known as neonatal progeroid... more...

Clinical features from OMIM®:

264090 (Updated 05-Mar-2021)

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

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