The proband described here has the above-mentioned features and presented with idiopathic thrombocytopenic purpura not reported before. Phenotypic variability is present in the three affected siblings. [ncbi.nlm.nih.gov]

In the second part of this review, the particular NBIA disorders are presented in details. [pubtransformer.com]

• Fatigue

  Major clinical signs include weight loss (often accompanied by an increased appetite), anxiety, intolerance to heat, fatigue, hair loss, weakness, hyperactivity, irritability, apathy, depression, polyuria, polydipsia, delirium, and sweating. [howlingpixel.com]

• Nausea

  Additionally, patients may present with a variety of symptoms such as palpitations and arrhythmias (notably atrial fibrillation), shortness of breath (dyspnea), loss of libido, nausea, vomiting, and diarrhea. [howlingpixel.com]

  Chronic diarrhea, including steatorrhea (fatty stools) Pain in the esophagus, especially between and after meals at night Nausea Wheezing Vomiting blood Malnourishment Loss of appetite Gastrinomas may occur as single tumors or as multiple small tumors [maria-online.com]

• Abdominal Pain

  Zollinger-Ellison syndrome: Signs and symptoms Patients with Zollinger–Ellison syndrome may experience abdominal pain and diarrhea. [maria-online.com]

• Failure to Thrive

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Hearing Impairment

  The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. [ncbi.nlm.nih.gov]

  @article{8509666, abstract = {Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearing impairment, diabetes mellitus, learning disabilities and extrapydamidal manifestations [biblio.ugent.be]

  impairment 0000407 Sparse hair 0008070 Showing of 38 | Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. [pubtransformer.com]

• Normal Hearing

  Chest andabdominal examination, as well as neurological examinationswere normal. Hearing assessment showedmild sensorineural deaf-ness, and an ophthalmological evaluation was normal. [docslide.com.br]

• Loss of Eyebrow Hair

  Hair: alopecia, partial, primarily involving scalp and eyebrows short, sparse, fine hair loss of eyebrow hair Endocrine Features: diabetes mellitus hypergonadotropic hypogonadism hypogonadotropic hypergonadism failure of secondary sexual development [malacards.org]

• Alopecia

  Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, and Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome edit English Woodhouse–Sakati syndrome Woodhouse-Sakati syndrome is [wikidata.org]

  The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, mental retardation and diabetes mellitus. Electrocardiogram anomalies have also been reported. [eurobuch.com]

  Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition [pubtransformer.com]

  Clinical presentation is variable, and a subset of patients may have additional features, such as premature aging, alopecia, distinctive facial features, cognitive impairment, or deafness. [mayoclinic.pure.elsevier.com]

• Purpura

  The proband described here has the above-mentioned features and presented with idiopathic thrombocytopenic purpura not reported before. Phenotypic variability is present in the three affected siblings. [ncbi.nlm.nih.gov]

  Keywords: woodhouse-sakati syndrome immune thrombocytopenic purpura This work is licensed under a Creative Commons Attribution 4.0 International License. [sciepub.com]

  Keywords: woodhouse-sakati syndrome, immune thrombocytopenic purpura Copyright © 2016 Science and Education Publishing. All Rights Reserved. 1. [pubs.sciepub.com]

• Sparse Hair

  Increased thyroid-stimulating hormone level Sparse hair (Source: Woodhouse-Sakati Syndrome; Genetic and Rare Diseases Information Center (GARD ) of National Center for Advancing Translational Sciences (NCATS), USA. ) How is Woodhouse-Sakati Syndrome [dovemed.com]

  Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Hypogonadotrophic hypogonadism 0000044 Increased thyroid-stimulating hormone level 0002925 Sensorineural hearing impairment 0000407 Sparse hair 0008070 Showing of 38 [rarediseases.info.nih.gov]

  Eyelashes and eyebrows are sparse or absent, and affected men have little or no facial hair. [malacards.org]

  Saethre-Chotzen syndrome Rh deficiency syndrome Rhizomelic chondrodysplasia punctata type 2 Camptodactyly syndrome Guadalajara type 2 Marinesco-Sjogren syndrome Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly Taurodontia, absent teeth, sparse [checkrare.com]

• Ulcer

  The increase in acidity contributes to the development of peptic ulcers in the stomach, duodenum (first portion of the small bowel) and occasionally the jejunum (second portion of the small bowel)-- the last of which is an 'atypical' ulcer. [maria-online.com]

  Velikonja T Results of 200 stapled hemorrhoidectomies 2003 ► Omejc M ; Omejc H ; Štor Z ASA score as an independent prognostic factor in patients with colorectal cancer 2003 ► Repše S ; Jelenc F ; Čalič M ; Žakelj B ; Omejc M ; Juvan R Surgical treatment of ulcerative [ricinus2.mf.uni-lj.si]

• Prominent Nasal Root

  Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism [orpha.net]

  Other manifestations may also be present, such as sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism [cags.org.ae]

  Other manifestations are very diverse: sensorineural hearing loss, T waves flattened ECG, convulsions, sensory polyneuropathy, a dysarthria (+ dysphagia), various craniofacial anomalies (high forehead, flattened occiput, triangular face, prominent nasal [sites.uclouvain.be]

  […] bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced [rarediseases.info.nih.gov]

Complete biochemical workup was done, which was non-contributory. Imaging Findings Imaging Technique: MRI Brain was done in a 3T MRI. Standard Brain Protocol with TIWI, T2WI, FLAIR, DWI and SWI images obtained. [eurorad.org]

Endocri-nology workup revealed a low estradiol level of levels and a low testosterone level of 1.85 nmol/l (reference range:3.4741.64). The IGF-1 level was also low at 64 ng/ml (referencerange: 187.9400). [docslide.com.br]

"Polycystic Ovarian Syndrome Workup". eMedicine. 25 October 2011. Archived from the original on 17 November 2011. Retrieved 19 November 2011. Sharquie KE, Al-Bayatti AA, Al-Ajeel AI, Al-Bahar AJ, Al-Nuaimy AA (2007). [maria-online.com]

Treatment There is no known treatment for the syndrome but there are treatments for the symptoms as they manifest. [medigest.uk]

Treatment : How to Treat "woodhouse sakati syndrome"? There is no known treatment for the syndrome but there are treatments for the symptoms as they manifest. Causes It is a mental condition that is inherited from the parent to child. [signssymptoms.org]

Woodhouse Sakati Syndrome Treatment There is no known treatment for the syndrome but there are treatments for the symptoms as they manifest. [illnessopedia.org]

Treatment is symptomatic and managed by multidisciplinary teams. Less than 80 cases are reported to date. [endocrine-abstracts.org]

Prognosis - Woodhouse Sakati syndrome Not supplied. Treatment - Woodhouse Sakati syndrome Not supplied. Resources - Woodhouse Sakati syndrome [checkorphan.org]

Genetic testing allowed a more accurate prognosis and a precise genetic counseling for our patient's family. [onlinelibrary.wiley.com]

Am j Hum Genet2008;83(6):684-91. [ 4 ] Çekdemir D, DizKüçükkaya R.Treatment and Prognosis of Immune Thrombocytopenia. Turkiye Klinikleri J Hematol-Special Topics 2014; 7 (2):72-9. [ 5 ] Koshy G, Danda S, Thomas N, Mathews V, Viswanathan V. [sciepub.com]

[…] spasms, parkinsonism neuropsychiatric optic atrophy retinal degeneration Radiographic features will vary among the various entities, but can broadly be thought of as 3 : basal ganglia signal abnormalities cerebellar and cerebral atrophy Treatment and prognosis [radiopaedia.org]

Etiology Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. Genetic counseling The disease is transmitted in an autosomal recessive manner. [orpha.net]

Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. [pubtransformer.com]

Anamnesis was asked to his relatives and there was no medical history which can explain the etiology of thrombocytopenia. [pubs.sciepub.com]

(Etiology) Woodhouse-Sakati Syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function The disorder is transmitted in an autosomal recessive manner (Source: Woodhouse-Sakati Syndrome ; Orphanet, [dovemed.com]

Summary Epidemiology Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far. Clinical description The onset is usually in adolescence. [orpha.net]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

[…] dystrophy (NAD) aceruloplasminaemia COASY protein-associated neurodegeneration (COPAN) fatty acid hydroxylase-associated neurodegeneration (FAHN) Kufor-Rakeb syndrome neuroferritinopathy Woodhouse-Sakati syndrome No single demographic is affected, and epidemiology [radiopaedia.org]

Epidemiology Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far. Clinical description The onset is usually in adolescence. [rarediseases.info.nih.gov]

Further studies for better understanding of the disease pathophysiology is required. References : 1. Bohlega SA, Alkuraya FS. Woodhouse-Sakati Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. [mdsabstracts.org]

The pathophysiology of WSS remains unclear. [ncbi.nlm.nih.gov]

But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders. [books.google.com]

The pathophysiology of WSS remains unclear. https://hal.univ-lorraine.fr/hal-01688744 Contributeur : Ngere Ul <> Soumis le : vendredi 19 janvier 2018 - 16:26:21 Dernière modification le : mardi 13 octobre 2020 - 10:46:53 [hal.univ-lorraine.fr]

[…] genetic basis of these rare and diverse inherited skin disorders in Pakistani population and adds data to the growing mutation database for selected genetic disorders.These are the initial steps taken to unveil the molecular pathways involved in the pathophysiologies [idexlab.com]

Prevention - Woodhouse Sakati syndrome Not supplied. Diagnosis - Woodhouse Sakati syndrome Not supplied. Prognosis - Woodhouse Sakati syndrome Not supplied. Treatment - Woodhouse Sakati syndrome Not supplied. Resources - Woodhouse Sakati syndrome [checkorphan.org]

How can Woodhouse-Sakati Syndrome be Prevented? Currently, Woodhouse-Sakati Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

The basis of treatment is still prevention in chronic kidney failure, starting medication and dietary restrictions long before dialysis treatment is initiated. [howlingpixel.com]

Iodine deficiency is the most common preventable cause of brain damage worldwide. [ 6 ] Although iodine is found in many foods, it is not universally present in all soils in adequate amounts. [enacademic.com]

C-peptide helps to prevent neuropathy and other vascular deterioration related symptoms of diabetes mellitus, a practitioner would measure the levels of C-peptide to obtain an estimate for the viable beta cell mass. [wikivisually.com]