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

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

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

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

[…] food dyes - Sleep apnea may be present (both obstructive due to hypotonia and central due to nervous-system imairment) - GERD due to hypotonia as infants - Delayed motor milestones as infants On the plus side, affected individual often seem to have a [diseasemaps.org]

• Short Stature

  - - - - - WDSTS short stature； microcephaly； Hypertelorism； flat nose; Thin lips; short neck; full cheeks; Sacral dimple; Developmental delay; Intellectual disability; Feeding difficulties; megaloureter; abnormal midface; cone-shaped epiphysis of the [databases.lovd.nl]

  MacDermot et al. (1989) also reported a sporadic case in a 7-year-old boy with short stature and facial dysmorphism that included downward palpebral fissures, mild hypertelorism, and a short nose with thick nostrils. [altmeyers.org]

  The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability. [ncbi.nlm.nih.gov]

  A 2 year-old boy with a short stature visited our pediatric endocrinology clinic for a diagnostic examination. In addition to his short stature, he had other symptoms characteristic of WSS including dysmorphic features and developmental delay. [e-apem.org]

• Developmental Delay

  In addition to his short stature, he had other symptoms characteristic of WSS including dysmorphic features and developmental delay. [e-apem.org]

  For patient 1, clinical features at 9 years of age included developmental delay, craniofacial abnormalities, and multiple minor anomalies. [ncbi.nlm.nih.gov]

  Wiedemann–Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. [moh-it.pure.elsevier.com]

• Feeding Difficulties

  difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Aggressive behavior Poor sleep Short stature Postnatal growth retardation KMT2A KMT2A [databases.lovd.nl]

  Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels of immunoglobulins as additional features. [moh-it.pure.elsevier.com]

  Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral [jhu.pure.elsevier.com]

• Falling

  However, as time went on, Bethany started at Chaddesden Park Primary School which is where she started showing signs of falling behind. Bethany loved school but struggled with making and keeping friends. [derbytelegraph.co.uk]

  Through Facebook, the Stuarts found another child with WSS in Ventura, and last fall the foundation hosted its first conference in Orlando, Florida. “Our kids were able to meet each other and play together,” said Stuart. [independent.com]

  […] cortical atrophy Malar flattening Hypoplasia of the corpus callosum Areflexia Nystagmus Hearing impairment Hyporeflexia Joint laxity Open mouth Myoclonus Bulbous nose Plagiocephaly Myopathy Muscle weakness Ptosis Tented upper lip vermilion Frequent falls [mendelian.co]

  In detail, they fall into six categories with this respective proportions: Nonsense 33%, deletions 26%, missense 16%, splice site 11%, duplications 9%, and insertions 5% (see Figure 2). [wjgnet.com]

• Collapse

  Similarly, the “diagnostic odyssey” to identify rare diseases has collapsed from years to months, sometimes even less, through the use of exome sequencing and analysis. [geneticliteracyproject.org]

  […] described.1 In contrast, adult-onset Leigh syndrome isvery rare.314 We present a 74-year-old previously well manwith characteristic neuropathological and neuroradiologicalfeatures of very late-onset Leigh syndrome who died after a shortillness.unexplained collapse [docslide.com.br]

  Pharyngeal collapse detected on endoscopy before the surgical advancement is recommended to identify the cases that will require CPAP or tracheostomy. [3] Mitsukawa et al (2013) performed early midfacial distractions on 11 syndromic craniosynostotic patients [emedicine.medscape.com]

• Aspiration

  The first night after her birth she began choking on amniotic fluid and although I used the aspiration bulb I couldn’t help her clear it and she began turning blue. My husband ran for a nurse and she whisked Charlee our of my arms and down the hall. [littlestwarrior.com]

  She is aspirating her formula, so thicken everything. We are going to punch a hole in her gut to get food and nutrition to her. Try to get her to wear oxygen. Learn how to give her injections. [imgbars.com]

  Doctors were unable to explain away his silent aspiration, failure to thrive, and intestinal problems as he spent more days in hospital beds than in his own crib at home. [thesouthern.com]

  At Morgan Stanley Children’s Hospital in Manhattan, the boy was seen by a parade of specialists, including a geneticist who recognized a possible genetic syndrome in the unusual facial features, heart anomalies, aspiration issues and the old-fashioned [geneticliteracyproject.org]

  […] nares Neoplasm Cataract Abnormality of the cardiovascular system Spastic gait Bilateral trilobed lungs Cavum septum pellucidum Midline brain calcifications Type I lissencephaly Abnormality of upper lip Pelvic kidney Contiguous gene syndrome Recurrent aspiration [mendelian.co]

• Cough

  For Briar Rose it means feeding tube, vomiting, asthma, coughing, slow motility, gtube fed, dysphagia, temperature regulation problems, sleep apnea, developmental delay. [imgbars.com]

• Dysphagia

  Pica Long face Apnea Arachnodactyly Cerebellar atrophy Ventriculomegaly Atrial septal defect CNS hypomyelination Postnatal microcephaly Brain atrophy Triangular face Short foot Short philtrum Autistic behavior Posteriorly rotated ears Broad forehead Dysphagia [mendelian.co]

  6 years MRI: Bilateral high signals medial thalamus,periaqueductal grey matterTypical Leigh thalamus, colliculi,periaqueductal grey matter8993 mtDNAmutation in ATPasegene liver, brain,heart, muscle200311 F/22 Rapidly progressive spastic paraparesis,dysphagia [docslide.com.br]

  For Briar Rose it means feeding tube, vomiting, asthma, coughing, slow motility, gtube fed, dysphagia, temperature regulation problems, sleep apnea, developmental delay. [imgbars.com]

  Case 2 is an 11-month-old male with dysphagia, hip dysplasia, decreased height for age (69 cm at 11 months with Z-score -3.2), and characteristic facial features of WSS. [frontiersin.org]

• Choking

  The first night after her birth she began choking on amniotic fluid and although I used the aspiration bulb I couldn’t help her clear it and she began turning blue. My husband ran for a nurse and she whisked Charlee our of my arms and down the hall. [littlestwarrior.com]

  When we found out she was choking because of poor coordination and high arched pallet, we learned to thicken foods, and when we had to stick a hole in her gut to get her adequate nutrition we reasoned it was for her good. [imgbars.com]

  Between his sixth to seventh months, I began voicing my concerns again to our pediatrician, Levi was now on a mix of formula and breastmilk, having difficulties swallowing and choking when we tried to move up bottle nipple sizes. [epmagazine.com]

• Hypertension

  After running various tests, the neonatologist said she had some pulmonary hypertension, which they thought would clear on its own as her body became more acclimated to life outside of the womb. [littlestwarrior.com]

  Other causes –Idiopathic –5 α-reductase deficiency –Hyperprolactinemia –HAIR-AN syndrome (hirsutism, androgenization, insulin resistance, and acanthosis nigricans) –Achard-Thiers syndrome: Obesity and facial hirsutism develop by 15–30 years of age; hypertension [checkorphan.org]

  Family history was notable for anemia in her brother and hypertension and diabetes mellitus in multiple relatives. At 15 weeks of age, the patient was admitted to the hospital due to poor weight gain and failure to thrive (FTT). [frontiersin.org]

• Hypertrichosis

  - - WDSTS Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Rib anomalies Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis [databases.lovd.nl]

  Beighton PH (1970) Familial hypertrichosis cubiti: hairy elbows syndrome. J Med Genet 7 158-160. Edwards MJ et al (1994) Hypertrichosis 'cubiti' with facial asymmetry. Am J Med Genet 53: 56-58. Flannery DB et al (1989) Hypertrichosis cubiti. [altmeyers.org]

  They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. [ncbi.nlm.nih.gov]

  Nonandrogen-related excessive growth of terminal hair around the elbows, known as hypertrichosis cubiti, has been reported alone and in association with a spectrum of phenotypic features. [news-medical.net]

  Keywords : Frameshift mutation; histone methyltransferases; hypertrichosis; intellectual disability; whole exome sequencing. [scielo.org.co]

• Hirsutism

  We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation. [ncbi.nlm.nih.gov]

  androgenization, insulin resistance, and acanthosis nigricans) –Achard-Thiers syndrome: Obesity and facial hirsutism develop by 15–30 years of age; hypertension and obesity occur later –Porphyria: Congenital erythropoietic porphyria have increased body [checkorphan.org]

  Hum Genet 1982 Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition? Göhlich-Ratman et al. [pubfacts.com]

  14 Issue 1, p23 BACKGROUND: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism [connection.ebscohost.com]

  Abstract Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism [jci.org]

• Prolapse

  Opitz-Kaveggia syndrome Orofacial cleft Orofaciodigital syndrome Osteoglophonic dysplasia Otofaciocervical syndrome Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Papillorenal syndrome Parietal foramina Pelger-Huet anomaly Pelvic organ prolapse [qlinics.com]

  […] dysplasia FGFR1 Otofaciocervical syndrome EYA1 Otospondylomegaepiphyseal dysplasia COL2A1 Otospondylomegaepiphyseal dysplasia COL11A2 Pallister-Hall syndrome GLI3 Papillorenal syndrome PAX2 Parietal foramina type 1 MSX2 Pelger-Huet anomaly LBR Pelvic organ prolapse [centogene.com]

• Lacrimation

  Other associated manifestations include aplasia or stenosis of the lacrimal ducts (8-9%), high-arched or cleft palate, deep overbite, and facial nerve anomalies. Some authors consider hemifacial microsomia (HFM) to be a severe form. [emedicine.medscape.com]

• Aniridia

  Horm Res 24: 166–176 Google Scholar 85. van Heyningen V, Boyd PA, Seawright A, Fletcher JM, Fantes JA, Buckto KE, Spowart G, Porteous DJ, Hill RE, Newton MS, Hastie ND (1985) Molecular analysis of chromosome 11 deletions in aniridia-Wilms' tumour syndrome [link.springer.com]

• Blepharoptosis

  General manifestations Blepharoptosis, microphthalmia, epibulbar tumors, and retinal abnormalities have been documented in Goldenhar syndrome. Visual acuity is usually reduced. [emedicine.medscape.com]

• Long Arm

  Wiedemann Steiner Syndrome is a mutation of the KMT2A gene located on the long arm of chromosome 11. [littlestwarrior.com]

  Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. KMT2A is a histone-modification enzyme, meaning that it helps modify the expression of other genes. [wiedemannsteiner.com]

  Wiedemann–Steiner syndrome results from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. The gene encodes a histone-modification enzyme — that is, it helps modify the expression of other genes. [moviecultists.com]

  Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder resulting from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. [wssfoundation.org]

  […] eyelashes, etc.[2] Cause[edit] Wiedemann–Steiner syndrome results from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11.[4] The gene encodes a histone-modification enzyme — that is, it helps modify the expression of other [en.wikipedia.org]

• 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]

• Severe Short Stature

  stature (50/71),and hypertrichosis (39/71).Conclusion Patients presented with short stature,typical facial dysmorphism,intellectual disability,and hypertrichosis should be considered for WDSTS.The mutation p.Thr3351Leufs * 17 in the KMT2A gene detected [pesquisa.bvsalud.org]

• Global Developmental Delay

  MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS Is also known as ;mucopolysaccharidosis-like plus disease Related symptoms: Autosomal recessive inheritance Global developmental delay Motor delay Abnormal facial shape Myopathy SOURCES: OMIM UMLS ORPHANET MONDO [mendelian.co]

  Wiedemann-Steiner syndrome is a rare genetic disorder that causes global developmental delays, unusual facial features, short stature, and reduction in muscle tone (hypotonia). [diseasemaps.org]

  WSS causes low muscle tone, global developmental delays, GI issues, unique facial features, spinal anomalies, excessive hair growth, and behavioral issues. WSS is a fairly new Syndrome and there are only around 300 diagnosed worldwide. [littlestwarrior.com]

  Wiedemann-Steiner Syndrome may be related to global developmental delays, sleeping difficulties, feeding and digestion complexities, unusual facial features, short/petite stature, hypotonia, dental issues, hairy elbows, long eyelashes, etc. [wssfoundation.org]

• Behavior Problem

  People with WSS may also have excessive hair on the elbows, arms, and back; difficulty feeding; behavior problems; and seizures. [rarediseases.org]

  Furthermore: feeding difficulties, behavioral problems, and seizures. Etiopathogenesis This section has been translated automatically. [altmeyers.org]

  Behavioral problems are common and include features of autism and attention deficit and hyperactivity disorder. Anxiety issues seem to play an increased role with advancing age. [orpha.net]

  problems Patent ductus arteriosus KMT2A KMT2A 1 1 Guorui Hu 00056380 - PubMed: Miyake 2015 - F - Japan - - - - - WDSTS initially diagnosed atypical Kabuki syndrome, unavailable for evaluation KMT2A KMT2A 1 1 Johan den Dunnen 00064037 - - - M no China [databases.lovd.nl]

• Poor Coordination

  When we found out she was choking because of poor coordination and high arched pallet, we learned to thicken foods, and when we had to stick a hole in her gut to get her adequate nutrition we reasoned it was for her good. [imgbars.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]

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]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

[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]

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 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]

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]

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]

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]

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]

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]

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]

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. cervical C2/C3 vertebral fusion Chiari malformation craniovertebral junction KMT2A small foramen [moh-it.pure.elsevier.com]

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

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. [moviecultists.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]