TaoMedAI/RareMedData huggingface dataset:
Staphylococcal scarlet fever (ORPHA:36235)
A rare bacterial infectious disease characterized by staphylococcal epidermolytic toxin-mediated scarlatiniform exanthema accentuated in the flexural areas, as well as fever and affection of the general condition. The exanthema progresses to desquamation in large flaps, while blistering is not observed. Enanthema, strawberry tongue or palatal petechiae are absent. The condition has mainly been reported in children and young adults.
Startle epilepsy (ORPHA:166427)
Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
STAT3-related early-onset multisystem autoimmune disease (ORPHA:438159)
A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.
Steatocystoma multiplex-natal teeth syndrome (ORPHA:3184)
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.
Epidemiology
It has been described a five-generation Chinese family with at least 21 affected patients.
Genetic counseling
The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested.

                            Last update: 
                            September 2009
Steel syndrome (ORPHA:438117)
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.
Sterile multifocal osteomyelitis with periostitis and pustulosis (ORPHA:210115)
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.
Sternal cleft (ORPHA:2017)
A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.
Steroid dehydrogenase deficiency-dental anomalies syndrome (ORPHA:3196)
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (ORPHA:83601)
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.
Stevens-Johnson syndrome (ORPHA:36426)
A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving less than 10% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent.
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome (ORPHA:506784)
An intermediate form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving between 10 to 29% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent.
Stiff skin syndrome (ORPHA:2833)
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.
Stimmler syndrome (ORPHA:3199)
Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.
STING-associated vasculopathy with onset in infancy (ORPHA:425120)
STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.
Stormorken-Sjaastad-Langslet syndrome (ORPHA:3204)
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
Straddling and/or overriding mitral valve (ORPHA:99064)
A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.
Straddling or overriding tricuspid valve (ORPHA:95461)
Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.
Streptobacillary rat-bite fever (ORPHA:99905)
Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.
Epidemiology
The disease is found worldwide, but the exact incidence is unknown.
Clinical description
High fever (up to 40 °C) is the first sign of infection (2-7 days after the bite) and is closely followed by chills, headache, nausea and vomiting. RBF is also associated with a morbilliform or purpuric rash of the extremities (in particular on the palms and the soles) and occasionally hemorrhagic vesicles on the hands and feet that may desquamate. Migratory polyarthralgia of the joints may also occur, generally leading to restricted movement. The bite typically heals quickly. In rare cases, complications are reported including endocarditis, pericarditis, myocarditis, diarrhea and degenerative changes in organs such as the kidneys and liver.
Etiology
The disease is generally contracted by the bites of infected rats and less often by other S. moniliformis hosts (gerbils, squirrels etc.>/i>). It can also be transmitted via ingestion of rat excrement through contaminated water, milk or food, in which case the contracted disease is called Haverhill fever. Streptobacillus moniliformis is predominantly present in the pharynx of the rats, but is also found in blood cultures and on arthritic or skin exudates.
Diagnostic methods
Diagnosis is based on characteristic growth, fatty acid profiles obtained by gas-liquid chromatography, blood antibody tests (agglutinating antibodies appearing from the 10th day) and to a lesser extent, on molecular detection of the germ.
Differential diagnosis
The differential diagnosis includes spirillary RBF (Sudoku; see this term) and several bacterial and viral infections (Lyme disease, leptospirosis, brucellosis, Rocky Mountain spotted fever, malaria, typhoid fever (see these terms), S. pyogenes and S. pyogenes-associated diseases, S. aureus infection, disseminated gonorrhea, meningococcemia, viral exanthemas, secondary syphilis, Epstein-Barr virus and coxsackieviruses).
Management and treatment
Management requires a prophylactic (avoiding direct or indirect contact with host animals) and therapeutic approach (local treatment and antimicrobial therapy). The most effective antibiotic treatment is penicillin G administration in non-allergic patients and tetracycline and streptomycin in penicillin-allergic patients.
Prognosis
Prognosis is excellent if the disease is treated. If left untreated, RBF carries a mortality rate of 13% due to complications.

                            Last update: 
                            August 2009


                            - Expert reviewer(s): 
                            Dr François TREMOLIERES
Striate palmoplantar keratoderma (ORPHA:50942)
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.
Stromal corneal dystrophy (ORPHA:98626)
The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
Epidemiology
Prevalence of this group of corneal dystrophies is unknown, but all are rare.
Clinical description
Age of onset is variable. Eleven subtypes of stromal corneal dystrophy have been identified: Pre-Descemet CD, Type I and Type II lattice CD, Type I and type II granular CD, Macular CD, Schnyder CD, Congenital stromal CD, Fleck CD, Posterior amorphous CD and Central cloudy dystrophy of François (see these terms).
Etiology
Like most corneal dystrophies, stromal forms are mostly genetically determined and mutations in the following genes have been identified as causing stromal lesions: TGFBI (5q31), CHST6 (16q22), UBIAD1 (1p36.22), DCN (12q23), and  PIKFYVE (2q34).
Genetic counseling
An autosomal dominant pattern of inheritance has been reported for all subtypes, with the exception of macular CD which is transmitted as an autosomal recessive trait.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Stromme syndrome (ORPHA:506307)
A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.
Strongyloidiasis (ORPHA:76)
A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).
Epidemiology
It affects between 30 and 60 millions people worldwide and is endemic to sub-tropical zones including Africa, the West Indies, Central and South America, the Indian Ocean region, South East Asia.
Clinical description
Acute infection is characterized by cutaneous manifestations such as serpiginous urticarial rash, cough, dyspnea, gastrointestinal symptoms (including pain and soft stools) and allergic manifestations; however over half of infected individuals remain asymptomatic. Strongyloides hyperinfection syndrome (SHS) may occur in patients with underlying illness such as HTLV1 infection or those undergoing corticosteroids or immunosuppressive treatment and often results in sepsis, shock, and acute respiratory distress syndrome. Respiratory, gastrointestinal, cutaneous, and neurologic symptoms are observed at variable frequencies, but the hallmark of SHS is the severity of organ failure requiring ICU admission.
Etiology
The female nematodes, which measure 2.5 mm in length, live in the small intestine of humans. Eggs laid in the small intestine hatch to release larvae that are normally excreted in the feces. On damp ground, these larvae reach their infectious stage directly or after a phase of sexual reproduction. In this infectious form they can penetrate the skin directly. Evolution towards the infectious stage may also take place within the digestive system, explaining the long duration of parasitosis (more than 30 years) observed in some cases.
Diagnostic methods
Diagnosis is made by serological test, agar plate culture or stool examination, the latter of which has low sensitivity and requires a minimum of three samples.
Differential diagnosis
Differential diagnosis may include ancylostomiasis and other causes of gastritis, enteritis, bronchitis, and dysentery.
Management and treatment
Access to clean water, footwear, and sanitation is fundamental to preventing new cases of strongyloidiasis. The treatment of choice is ivermectin. Disseminated infections may require intensive care.
Prognosis
Lifelong infection is possible if left untreated. Most patients remain asymptomatic even with chronic disease, but prognosis depends on development of complications. Disseminated infection is fatal in 60-70% of cases.

                            Last update: 
                            June 2019


                            - Expert reviewer(s): 
                            Dr Luc PARIS
STT3A-CDG (ORPHA:370921)
STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
STT3B-CDG (ORPHA:370924)
STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).
STXBP1-related encephalopathy (ORPHA:599373)
A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.
Subacute cutaneous lupus erythematosus (ORPHA:163525)
A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.
Subaortic course of innominate vein (ORPHA:99113)
Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.
Subaortic stenosis-short stature syndrome (ORPHA:3191)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.
Subcorneal pustular dermatosis (ORPHA:48377)
A rare, acquired, chronic neutrophilic dermatosis characterized by sterile superficial pustules, typically involving the flexural sites of the trunk and proximal extremities.
Epidemiology
Approximately 200 cases have been reported worldwide. The disease occurs more frequently in adults (40-60 years of age with a male to female ratio of 4:1).
Clinical description
Superficial flaccid grouped pustular lesions, which spread in an annular or gyrate pattern, arise within a few hours and resolve over a few days. Pruritus and irritation occur occasionally. The lesions characteristically evolve to fine scales with crusting and, in rare cases, mild hyperpigmentation. The disease may be associated with IgA monoclonal gammopathy, multiple myeloma or pyoderma gangrenosum. Less frequently associated conditions include rheumatoid arthritis, lupus erythematosus, hyperthyroidism and hypothyroidism, polycythemia rubra vera, SAPHO syndrome.
Etiology
The etiology remains unknown.
Diagnostic methods
Diagnosis is confirmed by skin biopsy demonstrating a sterile subcorneal pustule filled with neutrophils, an absence of acantholysis, and negative results from immunofluorescence studies.
Differential diagnosis
Differential diagnosis includes the subcorneal-type of IgA pemphigus, pemphigus foliaceus, dermatitis herpetiformis, pustular psoriasis, generalized pustulosis, generalized exanthematous pustulosis and bacterial impetigo.
Management and treatment
Management aims at preventing the complications. A dramatic response to dapsone has been reported but not all patients respond to this drug. In cases refractory to dapsone, other possible treatments (in combination with dapsone or not) include sulfapyridine, oral corticosteroids, tetracycline with niacinamide, retinoids, colchicine, phototherapy, and TNF-alpha inhibitors.
Prognosis
There is no impact on life expectancy for this disease. Dapsone is the drug of choice in most patients; lesions may resolve within weeks of treatment but maintenance doses may be needed to prevent relapses. In addition, addressing the underlying associated conditions has helped to achieve clinical response when done in conjunction with above treatments.

                            Last update: 
                            July 2024


                            - Expert reviewer(s): 
                            Dr Sung Kyung CHO  - Dr Victoria WERTH
Subcortical band heterotopia (ORPHA:99796)
A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.
Subependymal giant cell astrocytoma (ORPHA:251618)
A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.