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]

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]

The boy presented with major skeletal abnormalities, which receded during the first few months of life. [doi.org]

• Short Stature

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

  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]

  There have been over 30 cases of WR. [2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. [3] Presentation Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and [popflock.com]

• 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]

  difficulties Feeding problems Poor feeding [ more ] 0011968 Fever 0001945 Global developmental delay 0001263 Growth hormone deficiency 0000824 Hearing abnormality Abnormal hearing 0000364 Hepatic steatosis Fatty infiltration of liver Fatty liver [ more [rarediseases.info.nih.gov]

• Anemia

  A CELLULE FALCIFORMI BLACKFAN-DIAMOND, ANEMIA DI ANEMIA CONGENITA IPOPLASTICA FANCONI, ANEMIA DI PANCITOPENIA DI FANCONI ANEMIE SIDEROBLASTICHE METAEMOGLOBINEMIA DA DEFICIT DI METAEMOGLOBINAREDUTTASI METAEMOGLOBINEMIA CONGENITA EREDITARIA RD0010 SINDROME [retemalattierare.it]

  Cited by A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing. Peng Q, Zhang Y, Xian B, Wu L, Ding J, Ding W, Zhang X, Ding B, Li D, Wu J, Hu X, Lu G. Peng Q, et al. [pubmed.ncbi.nlm.nih.gov]

  36 A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies. 62 Lessel D...Kubisch C 34611991 2022 37 A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia [malacards.org]

  Ectrodactyly-ectodermal dysplasia-clefting) syndrome Encephalocele Encephalo-Cranio-Cutaneous syndrome Encephalomalacia Exencephaly Exencephaly Facio-Auriculo-Radial dysplasia Facio-Cardio-Renal (Eastman-Bixler)syndrome Familial Dysautonomia (Riley-Day syndrome) Fanconi Anemia [de.slideshare.net]

• Swelling

  55825310 white menstruation 白色月經 55825311 white mouth 鵝口瘡 55825312 white muscle 白肌 55825313 white muscle disease 白肌病 55825314 white scar of ovary 卵巢白斑 55825315 white sponge nevus 白色海綿樣痣 55825316 white superficial onychomycosis 白色表淺性甲癬 55825317 white swelling [sheethub.com]

  This is because the tiniest, lightest scratch against their skin causes it to swell and rise up. The risen scratch will usually last from 30–60 minutes. [listverse.com]

• 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]

  The children’s failure to thrive caused extreme parental anxiety and frustration. [gimjournal.org]

• Microstomia

  Hallerman-Streiff Syndrome : Characterized by the presence of microcephaly and brachycephaly, frontal bossing, hypoplastic mandible, a “beak-shaped” nose and microstomia. [accessanesthesiology.mhmedical.com]

  […] findings may represent progression Ocular manifestations include, cloudy cornea with congenital glaucoma, other dermatological manifestations like dermatitis/acrodermatitis enteropathica reported in some patients [14] were not reported in our patient Microstomia [ijp.mums.ac.ir]

  In affected infants and children, distinctive facial abnormalities may include an unusually small mouth (microstomia); a prominent chin, and low-set ears that are abnormally angled toward the back of the head (posteriorly angulated). [rarediseases.org]

• Blue Sclera

  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]

  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]

  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]

• 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]

• Thin Skin

  WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases. [wwww.unboundmedicine.com]

  Our two patients had characteristic features of WRS, including intrauterine growth retardation, aged appearance, near absence of subcutaneous fat, gluteal fat pads, also labial pad in the first infant, wrinkled thin skin, sparse scalp hair, prominent [degruyter.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]

  She had the skew deviation of the left eye, depressed nasal bridge, and maxillary dentoalveolar protrusion, prominent forehead and scalp veins, low-set small ears, sparse and thin hair of the scalp, eyebrows, and eyelashes, alopecia, and large crusted [brieflands.com]

• 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]

• Frontal Bossing

  Characteristic craniofacial abnormalities (frontal and parietal bossing) leading to a pseudohydrocephalus aspect. [accessanesthesiology.mhmedical.com]

  Symptoms - Neonatal progeroid syndrome 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), [checkorphan.org]

  Hooked nose Polly beak nasal deformity [ more ] 0000444 Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Entropion Eyelid turned in 0000621 Frontal [rarediseases.info.nih.gov]

• Global Developmental Delay

  developmental delay 0001263 Growth hormone deficiency 0000824 Hearing abnormality Abnormal hearing 0000364 Hepatic steatosis Fatty infiltration of liver Fatty liver [ more ] 0001397 Hip dysplasia 0001385 Hirsutism Excessive hairiness 0001007 Hydrocephalus [rarediseases.info.nih.gov]

Testing different medications for the treatment of progeria. [omicsonline.org]

Management The treatment of this syndrome is generally directed towards specific symptoms that the individual is experiencing. There is not a treatment that will cure the syndrome instead they are supportive and symptomatic. [boisestate.edu]

Management and treatment No specific treatment is possible. General supportive care including help in coping with the progressive nature of the disorder is indicated. [orpha.net]

[…] 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]

Anatomical characteristics and surgical treatment of bilateral congenital upper eyelid entropion in an infant with neonatal progeroid syndrome. Ophthal Plast Reconstr Surg. 2014; 30: 164-166 Hussein M.A. Paysse E.A. Bell N.P. et al. [jaapos.org]

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

Prognosis Many reported patients died in the first year of life; however, survival into adulthood has also been reported. [orpha.net]

Prognosis This is a rare genetic disorder that leads to a decreased life expectancy in affected individuals. The life expectancy and severity of this syndrome both vary from case to case. [boisestate.edu]

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]

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 hypothesis could be withdrawn concerning the etiology of WRS. [pubmed.ncbi.nlm.nih.gov]

However, many etiological and pathological aspects of this syndrome remain unknown. © 2005 Wiley-Liss, Inc. [repository.urosario.edu.co]

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

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

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. [accessanesthesiology.mhmedical.com]

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. [pubmed.ncbi.nlm.nih.gov]

Wiedemann-Rautenstrauch syndrome fibroblasts. 62 Baez-Becerra CT...Arboleda G 32976914 2020 44 Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. 62 Temel SG...Bertelli M 32555393 2020 45 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]

Deemed the “World’s Ugliest Woman” in a YouTube video that went viral when she was in high school, Velásquez has a rare syndrome that makes her look a lot older than she is and prevents her from gaining weight. [medicaldaily.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. [accessanesthesiology.mhmedical.com]