AB - We describe a girl who presents the features of Wiedemann-Rautenstrauch syndrome. This autosomal recessive condition has characteristic radiographic findings which can be considered manifestations of the syndrome. [moh-it.pure.elsevier.com]

[…] the present patient provides new knowledge about the naturalevolution of this syndrome. [docslide.com.br]

CASE: In the present report, we describe a patient with WRS followed for 17 years at the Instituto de Genética, Universidad Nacional de Colombia; this is an exceptional survival period for a person with WRS. [ncbi.nlm.nih.gov]

Dysmorphol. 1997. 6 (3) p.219-227 6:3 Summary: A boy with features suggesting the diagnosis of Wiedemann-Rautenstrauch syndrome (WRS) or neonatal progeroid syndrome is presented. [lib.ugent.be]

• Short Stature

  Patients have premature aging aspect, short stature and a poorly muscled build. [accessanesthesiology.mhmedical.com]

  Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. [en.wikipedia.org]

  A dictionary of medical eponyms Related people Hans-Rudolf Wiedemann Thomas Rautenstrauch A congenital syndrome characterised by intrauterine growth retardation, low birth weight, failure to thrive, short stature, widely open cranial sutures, a progeria-like [whonamedit.com]

  Clinical aspects Patients have premature aging aspect, short stature, and a poorly muscled build. [accesspediatrics.mhmedical.com]

  stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood (summary by Toriello, 1990). (264090) [malacards.org]

• Feeding Difficulties

  Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. [malacards.org]

  In some cases, if affected infants and children experience swallowing and feeding difficulties and cannot feed appropriately by mouth, a tube may be surgically inserted into the stomach or a portion of the small intestine (tube feeding) to help provide [rarediseases.org]

• Failure to Thrive

  A dictionary of medical eponyms Related people Hans-Rudolf Wiedemann Thomas Rautenstrauch A congenital syndrome characterised by intrauterine growth retardation, low birth weight, failure to thrive, short stature, widely open cranial sutures, a progeria-like [whonamedit.com]

  […] to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood (summary by Toriello, 1990). (264090) [malacards.org]

  Patients with WRS also experience poor weight gain, and failure to thrive through their lifetime. [rarediseases.org]

• Systolic Murmur

  The cardiac evaluation demonstrated a systolic murmur grade II/IV. External genitalia agreed with male condition except for bilateral criptorquidia. Limbs presented general hypotrophy and with imitated articular movements ( Figure 3c ). [nature.com]

• Alopecia

  Prominent scalp veins are noticeable (made more obvious by alopecia), as well as prominent eyes. [teamcarlyq.com]

  HGPS is characterized by features reminiscent of normal ageing such as alopecia, skin wrinkling and osteoporosis. [annalspc.com]

  Other signs and symptoms of this progressive disorder include : Hair loss (alopecia), including eyelashes and eyebrows Hardening and tightening of skin on trunk and extremities (scleroderma) Loose, aged-looking skin Head too large for face Prominent scalp [knowyourdisease.com]

  […] symptoms and signs of HGPS include: • Prominent eyes • Visible veins • Thin lips • Head is not proportional to the body and the head is too large for the face • Scleroderma or the tightening and hardening of the skin on the extremities and the trunk • Alopecia [myhealthyfeeling.com]

  Alopecia of his hair,eyelashes, and eyebrows has persisted. There is no denti-tion. He has a prominent nose, bilateral cryptorchidism,and hypoplasia of penis. His skin texture is softer thanbefore. [docslide.com.br]

• Large Hand

  hands and feet with long fingers and toes were found. [ncbi.nlm.nih.gov]

  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 [checkorphan.org]

  hands large hand 0001176 Long foot Disproportionately large feet large feet long feet [ more ] 0001833 Long penis Enlarged penis 0000040 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Micrognathia Little lower [rarediseases.info.nih.gov]

• Short Humerus

  […] femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Submucous [rarediseases.info.nih.gov]

• Long Toes

  […] fingers 0100807 Long toe Increased length of toes Long toes [ more ] 0010511 Low-set ears Low set ears Lowset ears [ more ] 0000369 Myalgia Muscle ache Muscle pain [ more ] 0003326 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ [rarediseases.info.nih.gov]

• Blue Sclera

  Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia, and glossoptosis). [icd10data.com]

  sclerae Whites of eyes are a bluish-gray color 0000592 Congenital malformation of the left heart 0045017 Dysplastic pulmonary valve 0005164 Hyperthyroidism Overactive thyroid 0000836 Increased serum estradiol 0025134 Increased serum testosterone level [rarediseases.info.nih.gov]

  He had alo-pecia of eyebrows and eyelashes, blue scleras, low-set androtated ears, thin lips, and down-slanting mouth angles.Four teeth were observed at delivery, 2 yellowish maxil-laries and 2 mandible incisors. [docslide.com.br]

• Aged Face

  Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins and muscles, a large and persistent anterior fontanelle and facial dysmorphism (triangular aged face, prominent eyes and scalp veins). [lib.ugent.be]

• Intracranial Hemorrhage

  There is an increased risk of intracranial hemorrhage during induction of anesthesia and special care must be given to prevent this complication. [accesspediatrics.mhmedical.com]

  Risk of intracranial hemorrhage. Careful temperature control (general absence of subcutaneous fat) and intraoperative positioning (restricted joint mobility) are needed. Antibiotic prophylaxis in cases of cardiac defect. [accessanesthesiology.mhmedical.com]

• Neonatal Onset

  onset lipodystrophy syndrome. 6 57 Garg A...University of Washington Center for Mendelian Genomics 25898808 2015 9 A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. 6 57 Akawi N...Al Gazali L 23696134 2013 10 Progeria [malacards.org]

[…] issn=2277-8632%3Byear=2012%3Bvolume=1%3Bissue=2%3Bspage=120%3Bepage=121%3Baulast=Vaddera Source:http://www.myhealthyfeeling.com/progeria-pictures-progeria-facts-disease-symptoms-treatment/ Source:http://symptomstreatment.org/progeria-pictures-facts-symptoms-treatment [gabbr.info]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Current treatment procedures Infantile hemangiomas are the most common benign tumors Thrombotic microangiopathies – hemolytic-uremic syndromes and thrombotic thrombocytopenic purpura Thrombotic microangiopathies are a heterogeneous group of disease Nonhealing [prolekare.cz]

[…] clinical drug trials, to the discovery of the very first drug treatment – all in just 13 years! [teamenzoprogeria.com]

Standard Therapies Treatment The treatment of Wiedemann-Rautenstrauch syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Prognosis - Neonatal progeroid syndrome Not supplied. Treatment - Neonatal progeroid syndrome Not supplied. Resources - Neonatal progeroid syndrome Not supplied. [checkorphan.org]

The condition carries a poor prognosis and no effective therapy is currently approved. [annalspc.com]

Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused [amazon.co.jp]

[…] syndromes, which include Hutchinson–Gilford Progeria, De Barsy syndrome, Cockayne syndrome, Berardinelli–Seip syndrome, Leprechaunism and Hallermann Streiff; however, these syndromes have different ages of presentation and clinical manifestations. 16 The prognosis [nature.com]

Etiology Etiology remains unknown. An increased chromosomal breakage, observed in some cases, suggests that DNA repair defects could be involved in the pathogenesis of this disorder. [orpha.net]

However, many etiological and pathological aspects of this syndrome remain unknown. Copyright 2005 Wiley-Liss, Inc. [ncbi.nlm.nih.gov]

Elsevier Health Sciences, 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.de]

Based on these observations, several hypotheses could be withdrawn concerning the etiology of WRS. [ijp.mums.ac.ir]

[…] nonsense variant in POLR3GL. 61 Beauregard-Lacroix E...Campeau PM 31695177 2020 35 POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology [malacards.org]

Summary Epidemiology More than 30 patients have been reported. [orpha.net]

Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology [prolekare.cz]

Pathophysiology Unknown. Diagnosis Progeroid appearance at birth and during infancy. Clinical aspects Patients have premature aging aspect, short stature, and a poorly muscled build. [accesspediatrics.mhmedical.com]

Wiedemann-Rautenstrauch syndrome. 61 Temel SG...Bertelli M 32555393 2020 31 Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts. 61 Baez-Becerra CT...Arboleda G 32976914 2020 32 Pathophysiology [malacards.org]

[…] phenotypic characteristics in WRS are pseudohydrocephalus, craniofacial disproportion, reduced subcutaneous fat, thin skin, rigid joints and neonatal teeth. 4, 5, 6, 7 Inheritance pattern is known, however, neither the molecular-genetic mechanisms nor the pathophysiology [nature.com]

In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely. [observatorio.fm.usp.br]

For National Bullying Prevention Month in 2015, she hosted a social media challenge for Bystander Revolution’s Month of Action. [evonews.com]

Home Health Centers Wellness, Prevention & General Health Arthritis Asthma & Allergies Child & Adolescent Health Diabetes Digestive Disorders / GERD Emotional Well-Being Heart Disease High Cholesterol Hypertension Pain Disorders Men's Health Senior Health [drdoleary.com]

There is an increased risk of intracranial hemorrhage during induction of anesthesia and special care must be given to prevent this complication. [accesspediatrics.mhmedical.com]

Prevention - Neonatal progeroid syndrome Not supplied. Diagnosis - Neonatal progeroid syndrome Not supplied. Prognosis - Neonatal progeroid syndrome Not supplied. Treatment - Neonatal progeroid syndrome Not supplied. [checkorphan.org]