Hypertrichosis (often on the back and/or cubiti) can be already present in infancy, but can also develop in childhood. [orpha.net]

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

[…] case) presented with intellectual disability (70/71),facial anomalies (70/71),short stature (50/71),and hypertrichosis (39/71).Conclusion Patients presented with short stature,typical facial dysmorphism,intellectual disability,and hypertrichosis should [pesquisa.bvsalud.org]

Its clinical features overlap with other syndromes that present with hypertrichosis 13. [redalyc.org]

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]

• Muscle Hypotonia

  Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone). [rarediseases.oscar.ncsu.edu]

• 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]

• 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]

It is also recommended to perform immunodeficiency workup in these individuals as recurrent infections can significantly affect long-term health and life expectancy of these children as it is a treatable complication. [jclpca.org]

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

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

Prognosis There is currently no evidence that life expectancy of individuals with WSS is shortened for the majority of individuals with the disorder. Most individuals have mild to moderate intellectual disability. [orpha.net]

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]

Etiology WSS is caused by variants in the KMT2A gene (11q23.3). This gene is involved in the regulation of many other genes in the genome. Diagnostic methods Diagnostic criteria for WSS have not been established. [orpha.net]

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]

Summary Epidemiology The estimated prevalence, based on germline mutation rates, is 1/25,000 -40,000; although this may be an underestimate due to clinical misdiagnosis with other disorders such as Kabuki syndrome and Rubinstein-Taybi syndrome as well [orpha.net]

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.[2] Epidemiology[edit] A little over 1000 people have been documented with the condition worldwide. [en.wikipedia.org]

Systematic longitudinal studies in children with WSS are warranted to address the apparent link between premature adrenarche, advanced bone age, and the pathophysiologic role of elevated 11KT, and to ensure reproducibility. [frontiersin.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]

Specific investigation strategies should be considered for early identification and prevention of craniovertebral junction complications in WDSTS patients. [zora.uzh.ch]

Specific investigation strategies should be considered for early identification and prevention of craniovertebral junction complications in WDSTS patients. cervical C2/C3 vertebral fusion Chiari malformation craniovertebral junction KMT2A small foramen [moh-it.pure.elsevier.com]

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]

Variants in the CDKN1C gene prevent this protein from restraining growth, which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome. [medlineplus.gov]