TaoMedAI/RareMedData huggingface dataset:
SCARF syndrome (ORPHA:3134)
A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.
Scarring in glaucoma filtration surgical procedures (ORPHA:90080)
A rare ophthalmic condition characterized by formation of excessive scar tissue between the conjunctiva/Tenon capsule and the sclera at the surgical site following glaucoma filtration surgery. Scarring can occur months or years after surgery, resulting in treatment failure with poor postoperative control of intraocular pressure and, potentially, loss of vision.
Scedosporiosis (ORPHA:449280)
A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.
Scheie syndrome (ORPHA:93474)
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Epidemiology
Prevalence is estimated at 1/500,000.
Clinical description
Symptoms commonly occur after the age of 5 years but are so mild that diagnosis is often not considered until adulthood. Patients are of almost normal height and do not show intellectual deficiency. Corneal opacification occurs progressively and diffusely, usually after the age of four years. Glaucoma is more frequent than in Hurler syndrome (see this term). Patients present with mild coarsening of the facial features, including a large mouth with thick lips. Patients may present with nasal secretion, neurosensorial hearing loss, stiff joints, mild skeletal changes and carpal tunnel syndrome. Aortic valve disease may be present. Compression of the cervical spinal cord, caused by glycosaminoglycan infiltration of the dura, may lead to spastic paresis if not corrected by neurosurgical intervention.
Etiology
Scheie syndrome is caused by mutations in the IDUA gene (4p16.3) leading to partial deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate.
Diagnostic methods
Early diagnosis is difficult because the first clinical signs are not specific, but is very important to allow early treatment. Diagnosis is based on detection of increased urinary secretion of heparan and dermatan sulfate through the 1,9-dimethylmethylene blue (DMB) test and glycosaminoglycan (GAG) electrophoresis, and demonstration of enzymatic deficiency in leukocytes or fibroblasts. Genetic testing is available.
Differential diagnosis
Differential diagnoses include the more severe forms of mucopolysaccharidosis type 1, Hurler-Scheie syndrome and Hurler syndrome, and mucopolysaccharidosis type VI and mucopolysaccharidosis type II (see these terms).
Antenatal diagnosis
Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling is recommended.
Management and treatment
Management should be carried out by a multidisciplinary team and should include physiotherapy to maintain range of movement. The enzyme substitute (laronidase) obtained EU marketing authorization as an orphan drug in 2003. Given through weekly infusions it leads to improvement of lung function and joint mobility. Enzyme replacement therapy (ERT) should be started at diagnosis and may be beneficial in patients awaiting hematopoietic stem cell transplantation (HSCT). Early treatment slows the progression of the disease.
Prognosis
Life expectancy for patients with Scheie syndrome may only be slightly affected.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Pr Michael BECK
Schilbach-Rott syndrome (ORPHA:2353)
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.
Epidemiology
SRS has been described in 18 individuals to date. Its prevalence is unknown.
Clinical description
Features of SRS include a typical facial gestalt characterized by hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males with SRS.
Etiology
Etiology is unknown.
Genetic counseling
Transmission is autosomal dominant with variable expressivity.

                            Last update: 
                            January 2014
Schilder disease (ORPHA:59298)
Schilder's disease is a progressive demyelinating disorder of the central nervous system.
Epidemiology
Less than 20 sporadic cases (predominantly males) have been reported so far.
Clinical description
The onset is usually in childhood (age 5-14 years). The disease often occurs shortly after an infectious illness and may manifest with headache, malaise and fever. Variable neurological abnormalities progressively develop and include personality changes, poor attention, dementia, aphasia, headache, vomiting, tremor, seizures, balance instability, incontinence, muscle weakness. Deafness, paralysis of eye movements, nystagmus, optic neuritis and optic atrophy are common. Malnutrition and cachexia are reported in the later chronic stages of illness. Schilder's disease is considered as a variant or borderline form of multiple sclerosis.
Etiology
Pathologically, it is characterized by bilateral widespread demyelination of the brain hemispheres with varying degrees of axonal injury. Etiology remains unclear.
Diagnostic methods
Diagnosis is based on sequential neuroimaging (consistent with subacute or chronic myelinoclastic diffuse sclerosis) and electroencephalographic studies.
Differential diagnosis
Differential diagnosis includes a wide range of neurodegenerative disorders such as multiple sclerosis, acute disseminated encephalomyelitis, subacute sclerosing panencephalitis, progressive rubella panencephalitis, brucellosis, metachromatic leukoencephalopathy, Churg-Strauss disease, Wegener granulomatosis (see these terms). Schilder's disease often mimics intracranial neoplasm or abscess.
Management and treatment
Management is mainly symptomatic and supportive (physiotherapy, occupational therapy, nutritional support in the later stages). Corticosteroids have been shown effective in some patients. Additional treatments include beta-interferon and/or immunosuppressive drugs.
Prognosis
Prognosis of Schilder's disease is variable. The clinical course is usually progressive, but significant improvement and remissions have also been described. Survival has been reported to be less than ten years after the onset. Patients with a good response to corticosteroids and those with smaller lesions may have a better prognosis.

                            Last update: 
                            July 2009


                            - Expert reviewer(s): 
                            Pr Bertrand FONTAINE
Schisis association (ORPHA:63862)
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.
Schistosomiasis (ORPHA:1247)
A rare parasitic disease characterized by infection with trematodes of the genus Schistosoma. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others.
Schneckenbecken dysplasia (ORPHA:3144)
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
Epidemiology
Less than 20 cases have been reported in the literature so far.
Clinical description
The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.
Etiology
This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)
Genetic counseling
Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.

                            Last update: 
                            September 2009
Schnyder corneal dystrophy (ORPHA:98967)
Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
Epidemiology
The prevalence of this form of corneal dystrophy is not known.
Clinical description
Lesions usually develop early in life and are mostly bilateral, but one eye may become affected prior to the other. Some patients complain of glare, which increases with age. Visual acuity gradually decreases. Associated systemic disorders have been commonly reported (hypercholesterolemia, arcus lipoides and genu valgum). Over time, small white opacities develop in the corneal stroma along with a diffuse haze. In about 50% of patients, crystals are not observed clinically.
Etiology
SCD is caused by various mutations in the UBIAD1 gene (1p36.22).
Diagnostic methods
Typically, a ring-shaped yellow-white opacity composed of innumerable fine needle-shaped crystals forms in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.
Differential diagnosis
SCD should be differentiated from other lipid keratopathies and particular from lecithin cholesterol acyltransferase disease (LCAT deficiency, see this term).
Genetic counseling
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
The superficial pathologic corneal tissue needs to be excised.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Schöpf-Schulz-Passarge syndrome (ORPHA:50944)
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
Epidemiology
More than 25 cases with SSPS have been described so far.
Clinical description
SSPS refers to a discrete phenotype of ectodermal dysplasia with a relatively benign course and late diagnosis, often established in adulthood. The onset of symptoms occurs in childhood and early adolescence, but they consist of relatively unspecific features, including various degrees of hypodontia, hypotrichosis, palmoplantar keratoderma and nail dystrophy. Telangiectatic rosacea is a further relatively common feature. Multiple eyelid apocrine hidrocystomas commonly appear in (late) adulthood. Palmoplantar keratoderma with histologic features of eccrine syringofibroadenoma is observed in nearly half of cases and occasionally develops a malignant potential. Other adnexal tumors described include basal cell carcinoma, eccrine poroma, benign acanthoma and follicular infundibulum tumor. Some patients have been described to have a bird-like facies. Within the WNT10A mutational spectrum, odonto-onycho-dermal dysplasia and SSPS are regarded as discrete entities, while an increasing number of patients are described with incomplete phenotypes of the odonto-onychial, tricho-odonto and tricho-odonto-onychial types.
Etiology
SSPS is due to homozygous or compound heterozygous mutations in WNT10A. Incomplete/localized disease expression in heterozygous carriers and multiple instances of consanguinity occasionally lead to a pseudodominant transmission.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            November 2013


                            - Expert reviewer(s): 
                            Dr Marco CASTORI
Scimitar syndrome (ORPHA:185)
Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.
Epidemiology
The prevalence is estimated at between 1/100,000 and 1/33,333 live births. Females seem to be more frequently affected than males.
Clinical description
In the majority of cases, the disease manifests in the first months of life. In the neonatal period, the disease presents with congestive cardiac failure, most commonly due to pulmonary hypertension and respiratory distress. The right lung is most frequently involved. Variable degrees of hypoplasia and malformations of the pulmonary arteries are found in the affected lung, as well as arterial supply from the aorta, which can also arise above or below the diaphragm. The heart itself is usually right-sided. Rarely, the disease may manifest with a small shunt, a cardiac murmur, and recurrent respiratory infections in children and adults. About one-fourth of affected patients have associated congenital heart disease (aortic coarctation, tetralogy of Fallot, patent arterial duct or ventricular septal defect; see these terms). Other reported associated anomalies include bronchogenic cysts, horseshoe lung, accessory diaphragm and hernias.
Etiology
The etiology is not completely understood. In several patients with total anomalous pulmonary venous return, the gene locus has been mapped to chromosome 4q12.
Diagnostic methods
The diagnosis is based on clinical presentation and transthoracic or transesophageal echocardiography, angiography, computed tomography and magnetic resonance angiography. The characteristic feature on chest radiographs, giving the condition its name, is a lesion in the shape of a scimitar (a type of curved Turkish sword).
Differential diagnosis
Scimitarsyndrome must be differentiated from pseudoscimitar syndrome (abnormal descending vein draining into the left atrium) and from Kartagener syndrome (see this term).
Antenatal diagnosis
Prenatal diagnosis is feasible by fetal echocardiography. Rarely, Scimitar syndrome is diagnosed incidentally in older children and adults who undergo chest radiography for diverse reasons.
Management and treatment
Management depends on the hemodynamic state. No therapy is required if the amount of blood flowing to the inferior caval vein is small. In case of significant left-to-right shunt and pulmonary hypertension, surgical correction is warranted, and can include repair of the anomalous venous return, ligation of collateral arteries, and right pneumonectomy.
Prognosis
When diagnosed in infancy, the syndrome is associated with significant mortality due to severe respiratory insufficiency, cardiac failure, and pulmonary infections.

                            Last update: 
                            May 2009


                            - Expert reviewer(s): 
                            Pr Robert ANDERSON
Scleredema (ORPHA:352763)
A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.
Scleroderma (ORPHA:801)
Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).
Epidemiology
The prevalence is estimated at around 1-9/100,000 for localized scleroderma, and 1/6,500 adults for systemic sclerosis. Women are predominantly affected (F/M sex ratio around 4:1).
Clinical description
Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract.
Etiology
The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms.

                            Last update: 
                            July 2010


                            - Expert reviewer(s): 
                            Pr Eric HACHULLA
Scleromyxedema without monoclonal gammopathy (ORPHA:90400)
Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.
Scleromyxedema (ORPHA:167635)
A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.
Sclerosteosis (ORPHA:3152)
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
Scorpion envenomation (ORPHA:466677)
Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.
Scott syndrome (ORPHA:806)
Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
Sebocystomatosis (ORPHA:841)
Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.
Epidemiology
At least 30 cases from unrelated families (over three to five generations) and several sporadic cases have been reported.
Clinical description
Sebocystomatosis usually manifests during the first or second decade of life and affects both sexes, with some studies indicating that the prevalence is higher in males.
Etiology
Sebocystomatosis is caused by mutations in the keratin-17 gene (KRT17, 17q12-q21).
Genetic counseling
An autosomal dominant pattern of inheritance has been suggested.

                            Last update: 
                            September 2009
Seborrhea-like dermatitis with psoriasiform elements (ORPHA:168606)
A rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.