We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes. [discovery.ucl.ac.uk]

In the present study, a four-generation consanguineous family with clinical manifestations of WSS was ascertained from a remote region of Pakistan. [agris.fao.org]

She presented to the gynecological clinic at the age of 29 with primary amenorrhea; by the time she presented, she had previously been on hormonal replacement therapy (HRT) for ten years, which had failed to induce menarche. [cureus.com]

We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. [pesquisa.bvsalud.org]

• Fatigue

  Maladaptive fatigue syndrome occurs when athletes are incapable of addressing stress, resulting in chronic anger, hostility, confusion, depression, apathy, or anxiety. [dovepress.com]

  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]

• Weight Gain

  gain and a muscular physique, whereas female athletes are pressurized to be thin, particularly in sports where having a small body size is beneficial for performance.82–84 Female athletes are at risk for failing to meet their estimated energy needs regarding [dovepress.com]

• Difficulty Walking

  walking, and no abnormal manifestations such as iron deposition on the MRI image. [frontiersin.org]

  Impact of Osteoarthritis on Difficulty Walking: A Population-Based Study. Arthritis Care Res. 2018, 70, 71–79. [mdpi.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]

  Sensorineural hearing impairment Cognitive impairment High palate Delayed speech and language development Peripheral neuropathy And another 65 symptoms. [mendelian.co]

  @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]

• 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

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

  Abstract Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. [discovery.ucl.ac.uk]

  Entry H00682 Disease Name Woodhouse-Sakati syndrome; Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome Description Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia [genome.jp]

  Devriendt K, Legius E, Fryns JP: Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome? Am J Med Genet 1996;62:54–57. [karger.com]

• Sparse Hair

  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]

  During her childhood, her parents noticed that her hair was sparse compared to other children’s. In adolescence, she did not show secondary sexual characteristics. Menarche did not occur. [frontiersin.org]

  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]

  Diabetes mellitus Standard treatment Hypothyroidism L-thyroxine replacement therapy Sparse hair Treatment is symptomatic & cosmetic only. [ncbi.nlm.nih.gov]

• 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]

• Mental Deterioration

  […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Mental deterioration Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 Micropenis [rarediseases.info.nih.gov]

  deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268 13 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332 14 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840 15 decreased testicular [malacards.org]

  deterioration Limb-girdle muscular dystrophy Palmoplantar keratoderma-sclerodactyly syndrome Limb-body wall complex Lopes Gorlin syndrome Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension Acral peeling [checkrare.com]

• Involuntary Movements

  Hyperkinetic movement disorders comprise a range of diseases characterized by unwanted and uncontrollable, or poorly controllable, involuntary movements. [books.google.com]

  She hadno involuntary movements. Currently, Patient 2 is exhibiting somelearning disabilities and poor school performance. She has border-line intellectual disability with an IQ of 78. [docslide.com.br]

• Guillain-Barré Syndrome

  He has just finished a session with Tim Fauquier, who rebounded from Guillain-Barré syndrome and learned to walk again, under Armitage’s guidance. It’s a bright morning in late August – “a red letter day,” Fauquier says. [ottawacitizen.com]

• Headache

  The incidences of dizziness, syncope, and fracture and the results for renal outcomes did not differ significantly between the two trial groups (Table 3), nor did the incidences of angioedema, headache, cough, and hives (Table S6). [nejm.org]

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]

• Testosterone Decreased

  testosterone in males 58 Very frequent (99-80%) 46 decreased serum insulin-like growth factor 1 31 HP:0030353 47 increased thyroid-stimulating hormone level 31 HP:0002925 48 primary ovarian failure 58 Very frequent (99-80%) 49 hypogonadotropic hypogonadism [malacards.org]

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]

When it comes to drug treatments for androgenetic alopecia, women are in a difficult position. Androgenic alopecia, or male pattern hair loss, is a common cause of concern to men. [diki.pl]

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

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]

[…] 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]

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]

In article View Article PubMed [4] Çekdemir D, DizKüçükkaya R.Treatment and Prognosis of Immune Thrombocytopenia. Turkiye Klinikleri J Hematol-Special Topics 2014; 7 (2):72-9. In article [5] Koshy G, Danda S, Thomas N, Mathews V, Viswanathan V. [pubs.sciepub.com]

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]

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]

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. [rareguru.com]

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]

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 Connectez-vous pour contacter le contributeur Soumis le : vendredi 19 janvier 2018 - 16:26:21 Dernière modification le : mardi 7 juin 2022 - [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]

Temple Bibliographic Information Book Title: Nutritional Health Book Subtitle: Strategies for Disease Prevention Editors: Ted Wilson, Norman J. [link.springer.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]

These interventions are necessary to achieve adequate nutrition and prevent eating disorders in elite youth athletes, especially to prevent injury. [dovepress.com]

Either way, she wants to use her story to promote a message of preventive health care. [washingtonpost.com]

They also suggest that intermittent pain and physical inactivity might be important targets for preventing osteoarthritis illness and highlight the need to consider both determinants of disease and illness when designing and evaluating prevention programs [mdpi.com]