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]

• 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]

• 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]

• 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]

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]

Recombinant human growth hormone treatment should be considered for treatment of GHD. [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]

[ edit ] There is no specific cure or treatment for Wiedemann–Steiner syndrome. [en.wikipedia.org]

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]

In this case, the patient had a good prognosis after receiving cardiac surgery. Most of WDSTS patients characterized developmental delay, Investigation of pituitary function should be undertaken in children with WDSTS. [journals.lww.com]

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]

WDSTS was initially reported by Wiedemann in 1989 and is classified as a chromatin remodeling defect.3 Genetically, whole exome sequencing in 2012 identified the etiology as heterogeneous de novo mutations in the KMT2A (lysine methyltransferase) gene.2 [onlinelibrary.wiley.com]

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]

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]

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]

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]