TaoMedAI/RareMedData huggingface dataset:
Brain malformation-congenital heart disease-postaxial polydactyly syndrome (ORPHA:75389)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.
Branchiogenic deafness syndrome (ORPHA:50815)
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
Branchiootic syndrome (ORPHA:52429)
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
Branchioskeletogenital syndrome (ORPHA:1299)
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
Brazilian hemorrhagic fever (ORPHA:319239)
Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.
BRESEK syndrome (ORPHA:85284)
A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.
Brittle cornea syndrome (ORPHA:90354)
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Brody myopathy (ORPHA:53347)
A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.
Bronchial neuroendocrine tumor (ORPHA:97287)
A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1.
Bronchiolitis obliterans (ORPHA:1303)
A rare lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.
Bronchogenic cyst (ORPHA:2357)
Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.
Bronchopulmonary dysplasia (ORPHA:70589)
Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
Brucellosis (ORPHA:1304)
Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.
Bruck syndrome (ORPHA:2771)
Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.
Epidemiology
Prevalence is unknown but less than 40 cases have been reported in the literature so far.
Clinical description
Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature. Mental development is normal.
Etiology
The syndrome is genetically heterogeneous: the locus was mapped to chromosome 17p12 in one family (Bruck syndrome 1) but mutations in the  PLOD2 gene (3q24) encoding telopeptide lysyl hydroxylase (Bruck syndrome 2) have been identified in other affected individuals.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            July 2008
Buerger disease (ORPHA:36258)
A rare systemic disease characterized by inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease with thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.
Epidemiology
The prevalence is estimated at 1/10,000 in Europe but the disease is found worldwide.
Clinical description
Patients present with clinical manifestations of an occlusive vascular disease characterized by distal arteriopathy of upper limbs: Raynaud's phenomenon at the beginning, rapidly followed by digital ischemia and/or gangrene. In lower limbs vascular disease is characterized at the beginning by plantar claudication then rapidly followed by ischemic distal lesions.
Etiology
The etiology of Buerger disease is unknown, but use or exposure to tobacco is central to the initiation and progression of the disease.
Diagnostic methods
The clinical criteria edited by Olin in 2000 include: age under 45 years; current or recent history of tobacco use; presence of distal-extremity ischemia, indicated by claudication, pain at rest, ischemic ulcers or gangrenes, and documented by non-invasive vascular testing; exclusion of autoimmune diseases, hypercoagulable states and diabetes mellitus; exclusion of a proximal source of emboli by echocardiography or arteriography; consistent arteriographic findings in the clinically involved and non-involved limbs. Vascular Doppler ultrasound is a useful tool which confirms distal arterial lesions (under elbow and knee). Computed tomography (CT-scan) is less useful as vascular lesions are distal. In case of superficial venous thrombosis, Doppler ultrasound will exclude venous insufficiency which is the major risk factor of superficial venous thrombosis. Dynamic oximetry of lower limbs reveals tissue hypoxia contrasting with apparent good clinical condition. Vascular biopsy is never performed because it's an invasive method but it will show specific histological findings: panvasculitis with hypercellular fresh thrombus including many macrophages and polynuclear/multinucleated cells.
Differential diagnosis
The differential diagnosis includes systemic vasculitis, thrombophilia, diabetes with macrovascular complications, dyslipidemia.
Management and treatment
If the patient smokes, stopping completely is an essential first step of treatment. The role of other treatments (including vasodilating or anti-clotting drugs, surgical revascularization or sympathectomy) in preventing amputation or treating pain remains unclear.
Prognosis
Buerger disease may be associated with functional consequences. Tobacco consumption is associated with a higher risk of limb amputation, either fingers in upper limbs or sub-gonal amputation, in which case, patients may require lower limb prosthesis.

                            Last update: 
                            September 2023


                            - Expert reviewer(s): 
                            Pr Marc LAMBERT
Bullous diffuse cutaneous mastocytosis (ORPHA:280785)
Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
Epidemiology
BDCM accounts for the majority of cases of DCM, with round 40 cases described in the literature to date.
Clinical description
Onset usually occurs during early infancy or during the neonatal period.
Etiology
Mutations in the KIT gene (4q11-q12) have been detected in patients with BDCM.

                            Last update: 
                            June 2013


                            - Expert reviewer(s): 
                            Pr A.P. [Arnold] ORANJE
Bullous impetigo (ORPHA:36237)
A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.
Bullous lichen planus (ORPHA:33408)
Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.
Epidemiology
Prevalence is unknown and only a few cases, both sporadic and familial, have been described in the literature.
Clinical description
The disease manifests during childhood or adolescence. Bullous lesions develop on top of preexisting lichen planus papules or on normal skin and generally affect the lower limbs or the lower mucosal lip, and in some rare cases the torso. In this condition, the epithelium separates from the dermis. In the case of oral bullous lichen planus, the vesicles and bullae burst soon after they appear which results in erosions.
Etiology
Etiology is unknown.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Dr Susan COOPER
Bullous pyoderma gangrenosum (ORPHA:538869)
A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.
Burning mouth syndrome (ORPHA:353253)
A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.
Butterfly-shaped pigment dystrophy (ORPHA:99001)
A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
BVES-related limb-girdle muscular dystrophy (ORPHA:476084)
A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
Böök syndrome (ORPHA:1262)
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
C syndrome (ORPHA:1308)
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
Epidemiology
The prevalence has been estimated to be between 1/800,000 and 1/1,000,000. Less than 60 cases have been reported so far.
Clinical description
C syndrome is a congenital disorder characterized by trigonocephaly, dysmorphic craniofacial features that include upslanting palpebral fissures, thick epicanthic folds, strabismus, depressed nasal bridge with short/thick nasal septum and columella, flat philtrum, thin vermilion borders, micrognathia, highly arched palate, buccal-gingival frenula, and multiple minor ear anomalies along with frontal midline capillary hemangioma. Cleft palate (see this term) is an occasional finding. The neck is apparently short, but this appears to be related to residual nuchal lymphedema, which may be generalized. Skeletal defects include short rhizo- and acromelic limb segments, hypermobile elbows with crepitus, polydactyly (usually postaxial), syndactyly (see these terms) of toes, sacral dimple and deformed chest. Intellectual disability may be severe, but normal intelligence quotient (IQ) has also been described in a few patients. Seizures and neonatal hypotonia have also been reported. Additional anomalies may include congenital heart malformations (50% of cases, and include interauricular communication, ventricular septal defect, tetralogy of Fallot, Eisenmenger syndrome), hernia (in particular diaphragmatic hernia), renal malformations (unilateral renal agenesis, multicystic dysplastic kidney or horseshoe kidney) (see these terms), genital anomalies (enlarged clitoris, small penis), and anal stenosis. Perinatal mortality rate appears to be around 50%.
Etiology
The etiology of C syndrome is still unknown.
Genetic counseling
Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. Reports of recurrence in sibs with unaffected parents suggest that familial cases may be caused by germinal mosaicism. As recurrence in siblings has been reported, subsequent pregnancies in affected families should be monitored.

                            Last update: 
                            November 2014


                            - Expert reviewer(s): 
                            Pr John OPITZ
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:495844)
A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.
C3 glomerulonephritis (ORPHA:329931)
A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.
CACH syndrome (ORPHA:135)
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.
Epidemiology
A total of 148 cases have been reported so far. Prevalence of this disease remains unknown.
Clinical description
Clinical symptoms are variable, from fatal infantile forms (Cree leukoencephalopathy) and congenital forms associated with extra-neurological affections, to juvenile and adult forms (ovarioleukodystrophy) characterized by cognitive and behavioural dysfunctions and by a slow progression of the disease, leading to the term of eIF2B-related leukoencephalopathies.
Etiology
This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. The patho-physiology of the disease would involve a deficiency in astrocytes maturation leading to an increased susceptibility of the white matter to cellular stress.
Diagnostic methods
Diagnosis relies on the detection of eIF2B mutations, predominantly affecting the EIF2B5 gene. A decrease in the intrinsic activity of the eIF2B factor (the guanine exchange activity, GEF) in lymphoblasts from patients seems to have a diagnostic value.
Management and treatment
No specific treatment exists besides the ``prevention'' of cellular stress. Corticosteroids sometimes proved to be useful in acute phases.
Prognosis
Prognosis seems to be correlated with the age of onset, the earliest forms being more severe.

                            Last update: 
                            September 2007


                            - Expert reviewer(s): 
                            Pr Odile BOESPFLUG-TANGUY  - Dr Anne FOGLI  - Pr Pierre LABAUGE  - Dr Florence NIEL BUETSCHI  - Pr Diana RODRIGUEZ
CAD-CDG (ORPHA:448010)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.
CADDS (ORPHA:369942)
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
Calcifying aponeurotic fibroma (ORPHA:199260)
A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.
Calciphylaxis cutis (ORPHA:280065)
A rare, life-threatening, non-inflammatory vasculopathy characterized clinically by progressive and painful skin lesions associated with calcification of cutaneous arterial microvessels. Calciphylaxis predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.