Deafness, which was accompanied by vestibular hypofunction, lentigines even in unexposed areas, optic nerve dysplasia, and dominant inheritance distinguished this form of ocular albinism. (In the LEOPARD syndrome (151100) vestibular function is normal.) Bard (1978) described a kindred that was atypical of Waardenburg syndrome (see 193510) in several ways. Although the nasal root was prominent, one affected person had dystopia of the inner canthi or lower puncta. ... Lewis (1989) expressed the opinion that the family reported by Bard (1978) as an instance of Waardenburg syndrome in fact had this disorder. Lewis (1989) had also been told of 2 other small families with the syndrome. Goldberg (1966) described a Waardenburg syndrome family with apparent ocular albinism. ... One individual with a prominent white forelock, characteristic of Waardenburg syndrome, was pictured. Molecular Genetics Studying the family reported by Bard (1978), Morell et al. (1997) demonstrated apparent digenic inheritance resulting from a combination of heterozygosity for a 1-bp deletion in exon 8 of the MITF gene (156845.0005) and homozygosity or heterozygosity for the R402Q polymorphism of the tyrosinase gene (TYR; 606933.0009), a functionally significant polymorphism that is associated with moderately reduced tyrosinase catalytic activity, and also heterozygous for the 1-bp deletion in MITF.

Clinical Features Braddock et al. (1993) reported 4 cases of sagittal craniosynostosis and the Dandy-Walker malformation (posterior fossa cyst, hypoplasia of the cerebellar vermis and often hydrocephalus) and suggested that they represented an autosomal dominant multiple malformation syndrome distinct from other disorders in which either craniosynostosis or the Dandy-Walker malformation is present. ... (Cohen (1993) referred to this as Jones syndrome. Not unexpectedly, at least one other disorder had been referred to as Jones syndrome (135550).) ... Mapping Vincent et al. (1994) described a contiguous gene syndrome resulting from deletion of 8q12.2-q21.2 (600257) and characterized by a combination of hydrocephalus with branchiootorenal (BOR) syndrome (113650), Duane syndrome (126800), and aplasia of the trapezius muscle.

Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome. ... In Denmark, an estimated 6.4 per 100,000 individuals have ectopia lentis, but a large proportion of these cases (about 75 percent) are syndromic. Causes Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis.

Maternal diabetes is a major risk factor for developing this syndrome, which is up to 200 fold more frequent than in the general population. ... The etiology seems to be multifactorial as maternal diabetes, vascular hypoperfusion, and genetic predisposition (for example mutation in VANGL1 gene) can lead to the syndrome. Diagnostic methods Diagnosis is based on antenatal ultrasound examination in the first trimester of pregnancy in the most severe cases. ... CRS has also been associated with the VACTERL syndrome (see this term). The Currarino syndrome (see this term) is a form of caudal regression syndrome characterized by the classic triad of presacral mass, sacral bone defect and anorectal malformation in which an autosomal dominant inheritance has been described with mutation or deletion of the HLXB9 gene. ... Depending on the severity of the syndrome, orthopedic interventions may also be required.

A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. ... Polymicrogyria has recently been reported as a distinctive neuro-radiological finding. Etiology The syndrome is caused by homozygous variants in the MED25 gene (19q13.33), coding for a component of the mediator complex. ... Differential diagnosis Differential diagnosis include other genetic syndromes characterized by intellectual disability accompanied by eye and brain abnormalities.

Psychological disorder proposed by professor Makoto Natsume A waitress at a restaurant is expected to exhibit positivity, such as smiling and expressing positive emotion towards customers Smile mask syndrome ( Japanese : スマイル仮面症候群 , Hepburn : sumairu kamen shōkōgun ) , abbreviated SMS , is a psychological disorder proposed by professor Makoto Natsume of Osaka Shoin Women's University , in which subjects develop depression and physical illness as a result of prolonged, unnatural smiling. [1] Natsume proposed the disorder after counselling students from the university in his practice and noticing that a number of students had spent so much time faking their smiles that they were unaware that they were smiling even while relating stressful or upsetting experiences to him. ... He relates examples of patients saying that they felt their smile had a large effect on whether they were hired or not, and that their superiors had stressed the effect that good smiles had on customers. [2] According to Natsume, this atmosphere sometimes causes women to smile unnaturally for so long that they start to suppress their real emotions and become depressed. [3] Japanese author Tomomi Fujiwara notes that the demand for a common smile in the workplace emerged in Japan around the 1980s, and blames the cultural changes wrought by the Tokyo Disneyland , opened in 1983, for popularizing the demand for an obligatory smile in the workplace. [3] The smile mask syndrome has also been identified in Korea. [4] Korean writer Bae Woo-ri noted that smiling gives one a competitive advantage over the others, and has become a necessary attribute of many employees, just like a "neat uniform". [4] Yoon-Do-rahm, a psychology counselor, compared the current society, which is full of smile-masks, to a clown show; both are characterized by plentiful, yet empty and fake, smiles. [4] Smile mask syndrome can cause physical problems as well as mental ones.

Please help improve the article by providing more context for the reader . ( February 2018 ) ( Learn how and when to remove this template message ) Refractory cytopenia with multilineage dysplasia Specialty Hematology Refractory cytopenia with multilineage dysplasia is a form of myelodysplastic syndrome . [1] It is abbreviated "RCMD". [2] [3] References [ edit ] ^ Rosati S, Mick R, Xu F, et al. ... "Refractory cytopenia with multilineage dysplasia: further characterization of an 'unclassifiable' myelodysplastic syndrome". Leukemia . 10 (1): 20–6. PMID 8558932 . ^ Warlick ED, Cioc A, Defor T, Dolan M, Weisdorf D (January 2009). "Allogeneic stem cell transplantation for adults with myelodysplastic syndromes: importance of pretransplant disease burden" . ... "Clinical significance of regulatory T cells in patients with myelodysplastic syndrome". Eur. J. Haematol . 82 (3): 201–7. doi : 10.1111/j.1600-0609.2008.01182.x . PMID 19018862 . [ dead link ] External links [ edit ] Classification D ICD - 10 : D46.7 ICD-O : MM9985/3 External resources eMedicine : article/1644209 Orphanet : 86836 v t e Myeloid -related hematological malignancy CFU-GM / and other granulocytes CFU-GM Myelocyte AML : Acute myeloblastic leukemia M0 M1 M2 APL/M3 MP Chronic neutrophilic leukemia Monocyte AML AMoL/M5 Myeloid dendritic cell leukemia CML Philadelphia chromosome Accelerated phase chronic myelogenous leukemia Myelomonocyte AML M4 MD-MP Juvenile myelomonocytic leukemia Chronic myelomonocytic leukemia Other Histiocytosis CFU-Baso AML Acute basophilic CFU-Eos AML Acute eosinophilic MP Chronic eosinophilic leukemia / Hypereosinophilic syndrome MEP CFU-Meg MP Essential thrombocytosis Acute megakaryoblastic leukemia CFU-E AML Erythroleukemia/M6 MP Polycythemia vera MD Refractory anemia Refractory anemia with excess of blasts Chromosome 5q deletion syndrome Sideroblastic anemia Paroxysmal nocturnal hemoglobinuria Refractory cytopenia with multilineage dysplasia CFU-Mast Mastocytoma Mast cell leukemia Mast cell sarcoma Systemic mastocytosis Mastocytosis : Diffuse cutaneous mastocytosis Erythrodermic mastocytosis Adult type of generalized eruption of cutaneous mastocytosis Urticaria pigmentosa Mast cell sarcoma Solitary mastocytoma Systemic mastocytosis Xanthelasmoidal mastocytosis Multiple/unknown AML Acute panmyelosis with myelofibrosis Myeloid sarcoma MP Myelofibrosis Acute biphenotypic leukaemia This article about a disease of the blood or immune system is a stub .

PMID 11586250 . v t e Congenital malformations and deformations of urinary system Abdominal Kidney Renal agenesis / Potter sequence , Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome Ureter Ectopic ureter Megaureter Duplicated ureter Pelvic Bladder Bladder exstrophy Urethra Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition Vestigial Urachus Urachal cyst Urachal fistula Urachal sinus v t e Male congenital anomalies of the genitalia, including Intersex and DSD Internal Testicle Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome Vas deferens Congenital absence of the vas deferens Other Persistent Müllerian duct syndrome External Penis Hypospadias Epispadias Chordee Micropenis Penile agenesis Diphallia Penoscrotal transposition Other Pseudohermaphroditism This medical article is a stub .

A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. ... Differential diagnosis Differential diagnosis includes other overgrowth disorders, such as Beckwith-Wiedeman syndrome or Simpson-Golabi-Behmel syndrome in the association with tall stature, nephromegaly, macroglossia, predisposition to Wilms tumor.

External links [ edit ] Classification D ICD - 10 : N28.8 ICD - 10-CM : N28.83 ICD - 9-CM : 593.0 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy

PMID 12788998 . 2012 AUA Guidelines [1] v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy v t e Components and results of urine tests Components Albumin Myoglobin hCG Leukocyte esterase Urine pregnancy test Ketone bodies Glucose Urobilinogen Bilirubin Creatinine RBC WBC Urinary casts Chemical properties Urine specific gravity Isosthenuria Urine osmolality Hypersthenuria Urine pH Urine anion gap Abnormal findings Red blood cells Hematuria ( Microscopic hematuria ) White blood cells Eosinophiluria Proteinuria Albuminuria / Microalbuminuria Albumin/creatinine ratio Urine protein/creatinine ratio Myoglobinuria Hemoglobinuria Bence Jones protein Small molecules Glycosuria Ketonuria Bilirubinuria Hyperuricosuria Aminoaciduria Other Bacteriuria Chyluria Crystalluria

External links [ edit ] Classification D ICD - 10 : Q82.5 ( ILDS Q82.502) MeSH : D054000 External resources eMedicine : article/1117506 v t e Skin cancer of the epidermis Tumor Carcinoma BCC Forms Aberrant Cicatricial Cystic Fibroepithelioma of Pinkus Infltrative Micronodular Nodular Pigmented Polypoid Pore-like Rodent ulcer Superficial Nevoid basal cell carcinoma syndrome SCC Forms Adenoid Basaloid Clear cell Signet-ring-cell Spindle-cell Marjolin's ulcer Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Actinic keratosis Adenocarcinoma Aggressive digital papillary adenocarcinoma Extramammary Paget's disease Ungrouped Merkel cell carcinoma Microcystic adnexal carcinoma Mucinous carcinoma Primary cutaneous adenoid cystic carcinoma Verrucous carcinoma Malignant mixed tumor Benign tumors Acanthoma Forms Large cell Fissuring Clear cell Epidermolytic Melanoacanthoma Pilar sheath acanthoma Seboacanthoma Seborrheic keratosis Warty dyskeratoma Keratoacanthoma Generalized eruptive Keratoacanthoma centrifugum marginatum Multiple Solitary Wart Verruca vulgaris Verruca plana Plantar wart Periungual wart Other Epidermal nevus Syndromes Epidermal nevus syndrome Schimmelpenning syndrome Nevus comedonicus syndrome Nevus comedonicus Inflammatory linear verrucous epidermal nevus Linear verrucous epidermal nevus Pigmented hairy epidermal nevus syndrome Systematized epidermal nevus Phakomatosis pigmentokeratotica Other nevus Nevus unius lateris Patch blue nevus Unilateral palmoplantar verrucous nevus Zosteriform speckled lentiginous nevus Ungrouped Cutaneous horn This Epidermal nevi, neoplasms, cysts article is a stub .

Description FATCO syndrome comprises fibular aplasia, tibial campomelia, and oligosyndactyly (Courtens et al., 2005). ... Although the femur and ulna were reportedly normal, Capece et al. (1994) diagnosed the femur-fibula-ulnar syndrome (228200) in that patient. Courtens et al. (2005) also referred to 2 unrelated Brazilian boys reported by Huber et al. (2003) who had bowed and short tibia, bilateral absence of the fibulae, and oligodactyly of the hands and feet. Although the femora and pelvic bones were reportedly normal, Huber et al. (2003) concluded that the Brazilian boys had Fuhrmann syndrome (228930). Courtens et al. (2005) stated that the common findings in these 5 patients included fibular agenesis, tibial campomelia, and oligosyndactyly, and proposed the acronym 'FATCO' for this condition.

A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-8 (LCCS8) is caused by homozygous mutation in the ADCY6 gene (600294) on chromosome 12q13. ... Description Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). Clinical Features Laquerriere et al. (2014) reported 2 sibs from a consanguineous family (A649) who were diagnosed with distal arthrogryposis multiplex congenita at 32 weeks' gestation by fetal ultrasound.

A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).

A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.

A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.

An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.

A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.

A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.