TaoMedAI/RareMedData huggingface dataset:
Subependymoma (ORPHA:251639)
Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.
Subepithelial mucinous corneal dystrophy (ORPHA:98959)
Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.
Epidemiology
Prevalence of this form of corneal dystrophy is unknown. The condition has only been reported in one single family.
Clinical description
Painful episodes of recurrent corneal erosions occur in the first decade of life but decrease during adolescence. Later in life, patients are reported to develop subepithelial opacities and a corneal haze. SMCD eventually progresses over time leading to corneal opacities and loss of vision.
Etiology
The etiology is unknown but is thought to be genetic. The gene related to SMCD has not been mapped to a particular chromosomal locus.
Diagnostic methods
A striking morphologic feature of corneal tissue in this form of corneal dystrophy is the presence of subepithelial mucinous material revealed by special stains.
Genetic counseling
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
SMCD can be treated medically with the aim of healing the epithelial defect and protecting the loosely adherent epithelium. A topical antibiotic, cycloplegic and pressure patch are valuable. A lubricating ointment is useful at night. Hypertonic saline and bandage contact lens therapy may also be beneficial.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Submucosal cleft palate (ORPHA:155878)
A rare form of cleft palate characterized by congenital muscular diastasis of the soft palate along the midline with an intact oral and nasal mucosal lining. It is diagnosed by the triad of a bifid uvula, a translucent zone in the soft palate, and a bony notch in the posterior edge of the hard palate, all of which may vary in severity. Velopharyngeal insufficiency in the absence of this triad is classified as occult submucosal cleft palate. Patients may be asymptomatic or present with early feeding problems with fluid reflux through the nose, speech problems, recurrent otitis media with effusions, and hearing loss.
Sudden infant death-dysgenesis of the testes syndrome (ORPHA:168593)
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Epidemiology
SIDDT syndrome has been described in 21 infants from nine separate sibships among the Old Order Amish.
Clinical description
Infants with SIDDT syndrome appear normal at birth except that they are often recognized by the unusual staccato sound of their cry. Within the first months of life, they develop signs of viscera-autonomic nerve dysfunction including bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. XY males have testicular dysgenesis and ambiguous genitalia. Female sexual development is normal.
Etiology
SIDDT syndrome is caused by homozygous mutation in the testis-specific protein Y-like-1 gene, TSPYL1 on chromosome 6 (6q22.1-q22.31).
Genetic counseling
The syndrome follows an autosomal recessive pattern of inheritance.
Prognosis
Prognosis is very poor: infants die before 12 months of age of sudden cardiorespiratory arrest.

                            Last update: 
                            December 2010
Sudden sensorineural hearing loss (ORPHA:90059)
A rare otorhinolaryngologic condition characterized by sudden hearing loss of at least 30 decibels across three contiguous frequencies, within 72 hours or less, due to acute damage to the cochlear hair cells, resulting from acoustic trauma or mechanical trauma during surgery, or occurring without any known cause. The hearing loss may affect one or both ears. Typical concomitant symptoms are aural fullness, tinnitus, and vertigo. Patients may fully recover or remain with hearing loss of variable intensity.
Sugarman brachydactyly (ORPHA:498602)
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.
SUNCT syndrome (ORPHA:57145)
A rare primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).
Epidemiology
The prevalence is estimated at approximately 1 in 15,000. It is slightly more predominant in males (male-to-female ratio of 1.5:1), with a mean age of onset of around 50 years. A few cases of SUNCT/SUNA syndrome have been reported in children.
Clinical description
The disease manifests with strictly unilateral pain attacks of moderate-to-severe or very severe intensity. The pain is described as throbbing, sharp or stabbing. It usually involves the ophthalmic division of the trigeminal nerve and, less commonly, may involve any part of the head. In the majority of cases, the pain attacks are triggered by cutaneous stimuli (and not by alcohol or nitroglycerin). Spontaneous attacks have also been described. The typical SUNCT/SUNA patient may have 50 to 100 short attacks a day, lasting for 1 to 5 minutes. The attacks predominate during the daytime. Prominent, ipsilateral conjunctival injection and lacrimation regularly accompany the attacks. Nasal stuffiness and rhinorrhea are frequent.
Etiology
Etiopathology remains unclear. Trauma, arteriovenous malformations and pituitary adenomas may have a causative role.
Diagnostic methods
The diagnosis is made after a careful history with attention to the features of the disorder as set out in the International Classification of Headache Disorders, 3rd Edition, careful physical examination and relevant investigations. Particular features of note are the relative brevity of lateralised attacks, their triggerability and the absence of a refractory period to stimulation.
Differential diagnosis
Trigeminal neuralgia is the major differential diagnosis. It is very important to differentiate SUNCT/SUNA syndrome from other trigeminal autonomic cephalgias such as cluster headache and paroxysmal hemicrania, as each of these syndromes have a highly selective response to treatment.
Management and treatment
There is no cure for SUNCT/SUNA syndrome. Patients may benefit from administration of lamotrigine, topiramate, gabapentin or carbamazepine. Oxygen, anaesthetic blockades, and sumatriptan or indomethacin therapies, known to be effective in other trigeminal autonomic cephalgias, have little or no effect in SUNCT syndrome. In severe cases, surgical techniques, such as microvascular trigeminal nerve root decompression, have been considered.
Prognosis
The prognosis is guarded in that most patients will continue to have attacks over many years.

                            Last update: 
                            February 2021


                            - Expert reviewer(s): 
                            Pr Peter GOADSBY
Superficial corneal dystrophy (ORPHA:98625)
The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial 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 and found mainly in populations carrying the responsible mutated genes.
Clinical description
Age of onset is variable, between early childhood and the second decade of life. Eight subtypes of superficial corneal dystrophy have been identified: Grayson-Willbrandt CD, Epithelial recurrent erosion dystrophy, Subepithelial mucinous CD, Meesmann CD, Lisch epithelial CD, Gelatinous drop-like CD, Reis-Bücklers CD, and Thiel-Behnke CD (see these terms).
Etiology
Genetic heterogeneity has been reported but all superficial corneal dystrophies appear to be genetically determined, and are usually inherited as Mendelian traits. Mutations in four genes:KRT3 (12q13.13), KRT12 (17q11-q12), TGFBI (5q31), and TACSTD2 (1p32), are currently known to cause inherited diseases that are apparently limited to the superficial cornea.
Genetic counseling
Transmission is autosomal dominant, autosomal recessive, or X-linked recessive depending on the condition.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Superficial epidermolytic ichthyosis (ORPHA:455)
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.
Epidemiology
Less than 30 families have been reported in the literature.
Clinical description
Clinical features of SEI are similar but milder that those of epidermolytic ichthyosis (EI; see this term). SEI presents at birth or during the neonatal period with mild superficial blistering that is more frequent on flexures, shins, abdomen and extremities. After a few weeks, the skin starts to peel leaving characteristic denuded areas with normal skin (called molting/ mauserung phenomenon). A variable and mild grey rippled hyperkeratosis develops predominantly on the limbs, lower trunk and flexural areas. Blistering diminishes with age but persists through childhood and sometimes into adult life in response to trauma, heat or excessive sweating. Palmoplantar involvement is usually not observed but palmoplantar blistering, usually associated with hyperhidrosis, may sometimes occur. Skin odor is not present.
Etiology
SEI is caused by mutations in the KRT2 gene encoding keratin 2. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton.
Diagnostic methods
Diagnosis is based on clinical and histological examination of skin lesions biopsies revealing acanthosis, a prominent granular layer, epidermolytic changes in the granular and upper spinous layers, hyperorthokeratosis and intracorneal blister formation. On electron microscopic examination, keratinocytes of the granular layer display structural alterations of tonofilaments. Molecular analysis, if available, reveals KRT2 mutations.
Differential diagnosis
Differential diagnosis includes epidermolytic ichthyosis, peeling skin syndrome, staphylococcal scalded skin syndrome, Alopecia-contractures-dwarfism-intellectual disability syndrome (see these terms), and atopic dermatitis.
Antenatal diagnosis
Genetic prenatal diagnosis is available for inherited ichthyoses (see this term) but it is generally not proposed for SEI due to its mild course.
Genetic counseling
Transmission is autosomal dominant. Genetic counseling should be offered to affected families. The risk for an affected parent to have an affected child is 50%.
Management and treatment
Treatment is symptomatic. Emollient and mild topical keratolytics may be used to reduce hyperkeratosis. Low dose of oral retinoids may also reduce hyperkeratosis, but must be used with caution because of their side effects and of their effect in the increase of skin fragility. Antibiotic therapy is required to treat secondary infection.
Prognosis
SEI is usually a mild disease. Life expectancy is normal and quality of life is not severely impaired.

                            Last update: 
                            December 2012


                            - Expert reviewer(s): 
                            Dr Nathalie JONCA  - Pr Juliette MAZEREEUW-HAUTIER
Superficial siderosis (ORPHA:247245)
Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.
Superior limbic keratoconjunctivitis (ORPHA:88633)
A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others.
Supernumerary breasts (ORPHA:180182)
A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.
Supernumerary nostril (ORPHA:141096)
Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.
Supratip dysplasia (ORPHA:466695)
Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.
SURF1-related Charcot-Marie-Tooth disease type 4 (ORPHA:391351)
A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
Susceptibility to infection due to TYK2 deficiency (ORPHA:331226)
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.
Susceptibility to localized juvenile periodontitis (ORPHA:447740)
A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.
Susceptibility to respiratory infections associated with CD8alpha chain mutation (ORPHA:169085)
A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency (ORPHA:391311)
A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.
Symbrachydactyly of hands and feet (ORPHA:1570)
Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
Symmetrical thalamic calcifications (ORPHA:1314)
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.
Epidemiology
It is an extremely rare condition, with about 30 cases described in the literature.
Diagnostic methods
The calcifications are revealed by computed tomography scanning.
Prognosis
The prognosis is very poor.

                            Last update: 
                            July 2006
Symphalangism with multiple anomalies of hands and feet (ORPHA:3246)
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.
Symptomatic form of fragile X syndrome in female carriers (ORPHA:449291)
A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).
Symptomatic form of HFE-related hemochromatosis (ORPHA:465508)
A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.
Epidemiology
The prevalence is unknown. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) primarily affect males and only a small percentage of female carriers have been reported to manifest symptoms of these diseases (24% of female carriers from families with DMD and 19% of female carriers from families with BMD).
Clinical description
Symptomatic female carriers usually present later than males with DMD or BMD. The muscle weakness is generally less severe than in affected males and is usually proximal and, unlike males, has an asymmetric distribution. The upper limbs may be weaker than the lower limbs. Myalgia and cramps have also been reported. The serum creatine kinase level is raised. Some patients may present with cardiac manifestations alone.
Etiology
DMD and BMD are both X-linked recessive diseases and are caused by dystrophin deficiency in skeletal and heart muscles due to variants in the DMD gene (Xp21.2). Females with clinical features of DMD and BMD are usually carriers of X-chromosome rearrangements and display skewed X-inactivation.
Diagnostic methods
Diagnosis can be confirmed by molecular testing of the DMD gene (Xp21.2-p21.1). Muscle biopsy shows a mosaic pattern of dystrophin expression.
Differential diagnosis
Differential diagnoses includes Turner syndrome.
Genetic counseling
The pattern of inheritance is X-linked and genetic counseling should be offered to affected families. Female siblings of a proband with DMD or BMD have a 50% risk of being carriers. Female offspring of a female carrier have a 50% risk of becoming a carrier, male offspring have 50% of inheriting DMD or BMD depending on the mutation. In female carriers, the penetrance of symptoms is variable; most carriers are asymptomatic.
Management and treatment
Management of symptomatic patients should be multidisciplinary, severely affected patients may require treatment with corticosteroids as in DMD. Physiotherapy and orthotics should be used to prevent joint contractures. Respiratory function should be monitored regularly and nocturnal hypoventilation treated with BiPAP (bilevel positive airway pressure). There should be regular cardiac monitoring of all female carriers of BMD and DMD, symptomatic and asymptomatic, with early treatment using ACE inhibitors and or beta-blockers.
Prognosis
Female carriers of DMD and BMD have been shown to be at increased risk of developing dilated cardiomyopathy, although the impact on survival is uncertain.

                            Last update: 
                            June 2020


                            - Expert reviewer(s): 
                            Dr Shpresa PULA  - Pr Rosaline QUINLIVAN
Syndactyly type 1 (ORPHA:93402)
A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.