WDRTS
MCID: WDM005
MIFTS: 47
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Wiedemann-Rautenstrauch Syndrome (WDRTS)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Wiedemann-Rautenstrauch Syndrome:
Characteristics:Orphanet epidemiological data:58
wiedemann-rautenstrauch syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
clinical variability onset in utero physical features are apparent at birth death usually in early childhood but survival to third decade has been reported HPO:31
wiedemann-rautenstrauch syndrome:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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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... |
Human phenotypes related to Wiedemann-Rautenstrauch Syndrome:58 31 (show top 50) (show all 164)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:264090 (Updated 05-Mar-2021)UMLS symptoms related to Wiedemann-Rautenstrauch Syndrome:action tremor, ataxia, truncal MGI Mouse Phenotypes related to Wiedemann-Rautenstrauch Syndrome:46
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MalaCards organs/tissues related to Wiedemann-Rautenstrauch Syndrome:40
Eye,
Bone,
Heart,
Skeletal Muscle
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Articles related to Wiedemann-Rautenstrauch Syndrome:(show top 50) (show all 59)
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ClinVar genetic disease variations for Wiedemann-Rautenstrauch Syndrome:6 (show all 26)
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Search
GEO
for disease gene expression data for Wiedemann-Rautenstrauch Syndrome.
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Cellular components related to Wiedemann-Rautenstrauch Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Wiedemann-Rautenstrauch Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Wiedemann-Rautenstrauch Syndrome according to GeneCards Suite gene sharing:
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