Symptoma

Wiedemann-Rautenstrauch Syndrome

Neonat Pseud Hydroceph Progero

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]

@article{17007c4cf6794ba98e11e19f6cc6ae64, title "Radiographic findings in Wiedemann-Rautenstrauch syndrome", abstract "We describe a girl who presents the features of Wiedemann-Rautenstrauch syndrome. [moh-it.pure.elsevier.com]

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

  • 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]

    stature and an aged appearance from birth. [medbox.iiab.me]

    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

    In addition, in some cases, affected infants may experience swallowing (dysphagia) and feeding difficulties that may contribute to growth delays and failure to thrive. Progressive neurological deterioration may occur in WRS. [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]

    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]

    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]

  • 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]

  • Lagophthalmos

    We report for the first time the findings of thin central corneas and lagophthalmos in WRS. Copyright 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

  • 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

    0006480 Premature skin wrinkling 0100678 Prolactin excess 0000870 Recurrent otitis media Recurrent middle ear infection 0000403 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Short femur Short thighbone 0003097 Short [rarediseases.info.nih.gov]

  • Long Toes

    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 [ more ] 0000545 Osteopenia [rarediseases.info.nih.gov]

  • 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). [ncbi.nlm.nih.gov]

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]

Treatment is symptomatic only. WRS has progressive course and early lethality. The first Ukrainian case of WRS is described and the literature is reviewed. Keywords Wiedemann-Rautenstrauch syndrome; first Ukrainian clinical case; review [iej.zaslavsky.com.ua]

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]

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]

The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. [healthmedicinet.com]

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

[…] 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]

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]

Elsevier Health Sciences, 18 ago. 2013 - 979 páginas 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.es]

However, many etiological and pathological aspects of this syndrome remainunknown. [docslide.com.br]

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]

[…] 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]

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]

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

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]

Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in. [knowyourdisease.com]