Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS. [ncbi.nlm.nih.gov]

Conclusions Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS. [connection.ebscohost.com]

Her oral hygiene was fair, and no caries were present. The enamel appeared normal. The teeth present were: 6E4321/1234E6 654321/1234E6 An orthopantomogram (OPG) was taken (Figure 2). [onlinelibrary.wiley.com]

[…] 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]

• 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]

• Recurrent Urinary Tract Infection

  This patient had recurrent urinary tract infections and renal alterations. Our patient also had two episodes of urinary tract infections, one of them complicated by pyelonephritis at the age of 20 months. [scielo.org.co]

• Delayed Speech Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

• Abnormal Teeth

  […] of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Aggressive behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Autosomal dominant inheritance 0000006 Blepharophimosis Narrow [rarediseases.info.nih.gov]

• 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]

• 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]

• Normal Stature

  Sun et al[27] reported short stature in all the patients described in the literature before their manuscript, while Baer et al[38] suggested that about half of the patients could present a normal stature. [wjgnet.com]

• Neurologic Manifestation

  manifestations reported in WDSTS include intellectual disability and psychomotor development delay that are present in 100% of patients, and hypotonia, which can be found in 66.7%. [scielo.org.co]

• Neglect

  This is a great opportunity, but it should not prompt the clinician to neglect the refinement of diagnostic skills, which can now also be supported by new technological aids[7]. [wjgnet.com]

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]

Prognosis - Hairy elbows Not supplied. [checkorphan.org]

Awareness and precise identification of CVID-associated lung disease may allow for better assessment of prognosis and direction of therapy. [medworm.com]

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]

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study // Archives of Disease in Childhood- Fetal and Neonatal edition (2014) (podatak o recenziji nije dostupan, prihvaćen) 3. [beta.bib.irb.hr]

Epidemiology of orofacial clefts in Northern Croatia // Book of abstracts of 12th European Symposium on Congenital Anomalies /. [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]

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]

DHSA is working in five broad areas; Awareness, Prevention of Disasters, Provision of basic needs, Livelihood and ... Read More [dhsa.af]

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]