Presentation
Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS. [ncbi.nlm.nih.gov]
[…] dysmorphism-developmental delay syndrome Prevalence: Inheritance: X-linked recessive or Autosomal dominant Age of onset: Neonatal, Infancy ICD-10: Q87.1 OMIM: 605130 UMLS: C1854630 MeSH: - GARD: 5565 MedDRA: - The documents contained in this web site are presented [orpha.net]
Conclusions Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS. [connection.ebscohost.com]
Entire Body System
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Poor Feeding
Children with this condition may benefit from a range of supportive treatments such as physiotherapy, speech therapy, supplementary nutrition for poor feeding, and special educational support. [en.wikipedia.org]
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Short Finger
finger Abnormality of the hand Acidosis Hypoglycemia Accelerated skeletal maturation Generalized hirsutism Broad-based gait Short toe Hypertrichosis Growth hormone deficiency Webbed neck Tapered finger Joint laxity Delayed puberty Finger clinodactyly [mendelian.co]
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Plethora
Histones are subject to a plethora of post-translational modifications, which are able to influence a variety of nuclear processes [ 6 ]. [ncbi.nlm.nih.gov]
Jaw & Teeth
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Small Widely Spaced Teeth
Craniofacial features include synophrys, arched eyebrows, long eyelashes, small upturned nose, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). [preventiongenetics.com]
Musculoskeletal
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Torticollis
Ultrasonographic study of the coexistence of muscular torticollis and dysplasia of the hip. J Pediatr Orthop. 2001 ;21(3): 343 – 347. Google Scholar Crossref Medline ISI [doi.org]
Neurologic
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Walking Delay
delay (HPO:0031936) 10/16; 63% Language delay (HPO:0000750) too young too young 12/14; 86% Intellectual disability (HPO:0001249) 14/15; 93% Aggressive behavior (HPO:0000718) – – – – – – – 4/16; 25% Hyperactivity (HPO:0007018) – – – – – – – – 2/16; 13% [ojrd.biomedcentral.com]
Workup
Pelvic ultrasound and CT scan of the abdomen would complete the workup, but why order these expensive diagnostic tests before consulting a gynecologist or endocrinologist? Prognosis - Hairy elbows Not supplied. [checkorphan.org]
Detailed immunological workup in the RS patients revealed markedly decreased BAFF-R expression on B cells. To our knowledge, this finding has not been previously published. [nature.com]
Treatment
Recombinant human growth hormone treatment should be considered for treatment of GHD. [ncbi.nlm.nih.gov]
[ edit ] There is no specific cure or treatment for Wiedemann–Steiner syndrome. [en.wikipedia.org]
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]
Prognosis
Awareness and precise identification of CVID-associated lung disease may allow for better assessment of prognosis and direction of therapy. [medworm.com]
Prognosis - Hairy elbows Not supplied. [checkorphan.org]
Diagnosis and Prediction of Fulminant Prognosis in Pediatric Acute Liver Failure : Investigations of Clinical Symptoms and Laboratory Data of 135 Cases by the Pediatric Acute Liver Failure Study Group in Japan MUSHIAKE,Sotaro;BESSHO,Kazuhiko;IDA,Shinobu [researchmap.jp]
Etiology
Gastroenteritis of unknown etiology (GUE) is a significant cause of mortality in the failure, and human immunodeficiency virus/acquired immunodeficiency syndrome.. Ten conditions had ICD-9 codes with the term “unspecified” in the title. [bemonformmis.cf]
Etiology Treacher Collins syndrome is inherited as an autosomal dominant trait with variable expressivity and high penetrance. A recessive form has also been described. [emedicine.medscape.com]
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet J Rare Dis. 2014 Mar 12;9:34. doi: 10.1186/1750-1172-9-34. Review. [ghr.nlm.nih.gov]
Deafness - etiologic factors and diagnostic algorithm // Paediatria Croatica / barišić, Ingeborg, editor(s). Zagreb, 2004. 11-12 (poster,domestic peer-review,abstract,scientific). 58. Barišić, Ingeborg; Petković, Giorgie; Mitrović, Zoran. [crosbi.znanstvenici.hr]
Epidemiology
School-aged children affected with WSS may benefit from one-on-one aides, modified instruction, and/or special day class environments. [6] Epidemiology [ edit ] A few hundred people have been documented with the condition worldwide. [en.wikipedia.org]
Pathophysiology
ID affects 1–3% of the population, but the pathophysiological background remains poorly understood [ 2 ]. [ncbi.nlm.nih.gov]
In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research. [nature.com]
Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency. [soar-rd.shinshu-u.ac.jp]
Prevention
It wasn't preventable, nor is there any expectation it would affect her siblings' children. "It really relieves a lot of worry to know that," Siloti said. [sciencedaily.com]
Obesity and facial hirsutism develop by 15–30 years of age; hypertension and obesity occur later –Porphyria: Congenital erythropoietic porphyria have increased body hair, red urine, photosensitivity with bullae, and red to pink teeth (werewolves of old) Prevention [checkorphan.org]
Most LIFR gene mutations that cause Stüve-Wiedemann syndrome prevent production of any LIFR protein. Other mutations lead to production of an altered protein that likely cannot function. Without functional LIFR, signaling is impaired. [ghr.nlm.nih.gov]
European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans // Public Health Genomics, 17 (2014), 115-123 doi::10.1159 [beta.bib.irb.hr]
U: 10th European Symposium on Prevention of Congenital Anomalies, Book of Abstracts. Bilbao, str. 62-62. 1162. [bib.irb.hr]