We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes.[ncbi.nlm.nih.gov]
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]
This study presents a first report of Woodhouse-Sakati syndrome identified in Pakistani population.[ncbi.nlm.nih.gov]
The present report describes the clinical signs and symptoms of three affected siblings from a consanguineous Bedouin family from Kuwait.[ncbi.nlm.nih.gov]
Here we present clinical details of two affected siblings from a new Middle East family and draw attention of movement disorder specialists to this entity.[ncbi.nlm.nih.gov]
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]
The physical characteristics include: normal facial features, childlike highpitchedvoice, proportioned body, and abnormal genitalia. Their mental development is normal to slightly delayed.[howlingpixel.com]
Dysarthria (often with a high-pitchedvoice) and dysphagia are common. In a majority of individuals, dystonia becomes generalized and disabling ( Figure 1B, 1F, 1H ). Progressive dystonia of the trunk may lead to severe dystonic scoliosis.[ncbi.nlm.nih.gov]
Those with dysphagia often require measures to reduce oral secretions, use of thickened liquids and pureed foods to avoid aspiration, and eventually a gastrostomy to help maintain caloric intake.[ncbi.nlm.nih.gov]
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]
[…] 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]
The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearingimpairment, ECG changes, and by autosomal recessive inheritance.[ncbi.nlm.nih.gov]
Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearingimpairment, diabetes mellitus, learning disabilities and extrapydamidal manifestations.[ncbi.nlm.nih.gov]
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]
@article{8509666, abstract {Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearingimpairment, diabetes mellitus, learning disabilities and extrapydamidal manifestations[biblio.ugent.be]
Alopecia, neuropathy, endocrinopathy (ANE) syndrome (OMIM 612079 ) 3 RBM28 AR Hypogonadotropic hypogonadism, alopecia, adrenal insufficiency and cognitive impairment Hutchinson-Gilford progeria syndrome LMNA AD 4 Alopecia, aged-looking skin, joint abnormalities[ncbi.nlm.nih.gov]
Treatments for the various forms of alopecia have limited success. The cause of alopecia is unknown; the hair usually grows back. Thomas developed alopecia when she was six, losing chunks of her hair.[diki.pl]
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, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance.[ncbi.nlm.nih.gov]
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]
Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominentnasalroot, hypertelorism[orpha.net]
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, prominentnasal[sites.uclouvain.be]
She had dysmorphic facial features including a triangular shape with a large forehead, sparse eyebrows and eyelashes, alopecia predominant in the fronto-temporal region of the scalp, hypertelorism, large ears, prominentnasalroot, precocious skin aging[cags.org.ae]
There may be various craniofacial abnormalities such as a high forehead, flat occiput, triangular face, prominentnasalroot, hypertelorism which is an abnormally increased distance between the eyes, and down-slanting palpebral fissures.[nbiacanada.com]
In all studied male patients, there was an absence of secondary sexual characteristics with cryptorchidism. Abnormal hormonal levels in the form of low testosterone levels were observed in only three of seven (43%) of our male patients.[journals.lww.com]
One male had cryptorchidism [ Rachmiel et al 2011 ]. Although the testes are of normal size, testicular biopsy reveals reduced spermatogenesis with predominance of Sertoli cells and few Leydig cells [ Woodhouse & Sakati 1983 ].[ncbi.nlm.nih.gov]
[…] syndrome Congenital central hypoventilation syndrome Alternating hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids cryptorchidism[checkrare.com]
instability Brain iron accumulation on MRI Dystonia See footnote 7 AD AR XL Variable phenotype ; hypogonadism & alopecia not observed Deafness and hereditary hearing loss See footnote 8 AD AR XL mtDNA Variable phenotype w/variable age of onset; hypogonadism[ncbi.nlm.nih.gov]
problems (almost exclusively in males) Neurodegeneration with brain iron storage disorders PANK2 PLA2G6 C19orf12 FA2H ATP13A2 WDR45 COASY FTL CP AR XL AD 6 Variable phenotype : variable age of onset, dystonia w/postural instability Brain iron accumulation[ncbi.nlm.nih.gov]
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]
Consultation with a clinical geneticist and/or genetic counselor Treatment of Manifestations No specific treatment exists for WSS. All treatment is symptomatic. Endocrine Hypogonadism.[ncbi.nlm.nih.gov]
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]
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]
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]
Prognosis - Woodhouse Sakati syndrome Not supplied. Treatment - Woodhouse Sakati syndrome Not supplied. Resources - Woodhouse Sakati syndrome[checkorphan.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]
[…] 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]
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]
(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]
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]
[…] 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. Contributeur : Ngere Ul Soumis le : vendredi 19 janvier 2018 - 16:26:21 Dernière modification le : lundi 23 avril 2018 - 15:53:48[hal.univ-lorraine.fr]
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]
While not exclusive, the two most common forms are diabetic retinopathy and diabetic nephropathy, whose pathophysiologies are largely identical.[howlingpixel.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]
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]
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]