TaoMedAI/RareMedData huggingface dataset:
Bencze syndrome (ORPHA:1241)
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
Benign cephalic histiocytosis (ORPHA:157997)
A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.
Benign concentric annular macular dystrophy (ORPHA:251287)
Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bulls eye configuration.
Benign epithelial tumor of salivary glands (ORPHA:276148)
Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.
Benign familial mesial temporal lobe epilepsy (ORPHA:163717)
Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.
Benign focal seizures of adolescence (ORPHA:1544)
A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.
Benign hereditary chorea (ORPHA:1429)
A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.
Benign idiopathic neonatal seizures (ORPHA:64545)
A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.
Benign infantile focal epilepsy with midline spikes and waves during sleep (ORPHA:166308)
Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.
Benign infantile seizures associated with mild gastroenteritis (ORPHA:166305)
Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.
Benign metanephric tumor (ORPHA:464359)
A rare renal tumor characterized by a benign epithelial (metanephric adenoma), biphasic (metanephric adenofibroma) or renal stromal (metanephric stromal tumor) neoplasm. Metanephric adenoma mostly occurs in the fifth to sixth decade of life with distinct female predominance. It may be asymptomatic or present with abdominal pain, hematuria, and/or polycythemia. Metanephric adenofibroma has been described from infancy to young adulthood, potentially causing polycythemia or hematuria. Metanephric stromal tumor typically presents in infancy or childhood as an abdominal mass, sometimes manifestations of extrarenal vasculopathy such as hypertension or hemorrhage.
Benign nocturnal alternating hemiplegia of childhood (ORPHA:209973)
Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.
Benign paroxysmal tonic upgaze of childhood with ataxia (ORPHA:1179)
Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Benign partial epilepsy of infancy with complex partial seizures (ORPHA:166299)
Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.
Benign partial epilepsy with secondarily generalized seizures in infancy (ORPHA:166302)
Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.
Benign Samaritan congenital myopathy (ORPHA:324581)
Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
Benign schwannoma (ORPHA:252164)
A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.
Benign tumor of fallopian tubes (ORPHA:180237)
A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction.
BENTA disease (ORPHA:464336)
A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.
Bernard-Soulier syndrome (ORPHA:274)
A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Beta-mannosidosis (ORPHA:118)
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
Beta-mercaptolactate cysteine disulfiduria (ORPHA:1035)
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
Beta-propeller protein-associated neurodegeneration (ORPHA:329284)
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 (ORPHA:119)
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
Beta-thalassemia associated with another hemoglobin anomaly (ORPHA:231230)
Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].
Beta-thalassemia with other manifestations (ORPHA:231386)
Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.
Etiology
These forms of beta-thalassemia are not related to defects in the beta-globin gene cluster but to mutations either in the gene encoding the transcription factor TFIIH (beta-thalassemia - trichothiodystrophy) or in the X-linked transcription factor GATA-1 (beta-thalassemia - X-linked thrombocytopenia; see these terms).

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Pr Renzo GALANELLO  - Dr Raffaella ORIGA
Beta-thalassemia-X-linked thrombocytopenia syndrome (ORPHA:231393)
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
Epidemiology
Prevalence of this form is not known.
Etiology
The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes.
Genetic counseling
Transmission is X-linked.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Pr Renzo GALANELLO  - Dr Raffaella ORIGA
Beta-ureidopropionase deficiency (ORPHA:65287)
Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
Bickerstaff brainstem encephalitis (ORPHA:79138)
A rare autoimmune encephalitis/neuropathy characterized by disturbances of consciousness, ophthalmoplegia, ataxia, and hyperreflexia. It has common clinical features with Miller Fisher syndrome.
Epidemiology
Prevalence is unknown.
Clinical description
Patients usually present with onset of diplopia and gait disturbance (gait ataxia) followed by disturbances of consciousness and hyperreflexia, typically following upper respiratory or gastrointestinal tract infections. The symptoms are progressive (within 4 weeks of onset). Flaccid symmetrical tetraparesis may also be observed in 60% of the patients, together with deep or superficial sensory impairment, facial weakness, bulbar palsy, internal ophthalmoplegia, blepharoptosis and nystagmus. In the acute phase of disease, BBE may be so severe that there is coma and complete ophthalmoplegia. Brain MRI studies are usually unremarkable.
Etiology
BBE has been reported to occur following upper respiratory or gastrointestinal tract infections. Although the exact pathological mechanism is not fully understood, BBE is associated with the presence of the antiganglioside antibody, anti-GQ1b.
Diagnostic methods
Diagnosis is based on the clinical findings, patient history, cerebrospinal fluid (CSF) analysis (revealing raised protein levels), detection of serum anti-GQ1b IgG antibodies (not present in all patients). MRI studies are usually unremarkable. Electroencephalogram and electromyography are indicative of central nervous system and predominantly in the brainstem.
Differential diagnosis
BBE shows clinical overlap with Miller-Fisher syndrome (MFS), a cranial nerve variant of Guillain-Barré syndrome (GBS), as well as with the axonal forms of GBS (acute motor axonal neuropathy and acute motor-sensory axonal neuropathy) in patients with limb weakness, leading several authors to suggest that BBE, MFS and GBS represent variable manifestations of the same clinical spectrum. The differential diagnosis in patients with BBE should also include acute disseminated encephalomyelitis (ADEM), as well as rare post-infectious neurological disorders.
Management and treatment
Management is based on immunotherapy with intravenous immunoglobulin (IVIg) or plasma exchange.
Prognosis
Although the clinical picture is severe, the disease course is generally monophasic with complete remission of symptoms within 6 months in over half of the patients. Other patients may have mild to severe residual findings.

                            Last update: 
                            November 2023


                            - Expert reviewer(s): 
                            Pr Satoshi KUWABARA
Biemond syndrome type 2 (ORPHA:141333)
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.
Bietti crystalline dystrophy (ORPHA:41751)
A rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
Bifid nose (ORPHA:2695)
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.
Bifid uvula (ORPHA:99771)
Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
Epidemiology
The prevalence is unknown.
Clinical description
The cleft in the uvula is median. The clinical forms range from a simple posterior notch to the complete duplication of the uvula. Bifid uvula has no clinical repercussions.
Etiology
This embryopathy appears in the 7th to 12th week of pregnancy following an error in the fusion of the palatine process, which usually involves a fusion that occurs from the front to back of the hard palate, the soft palate and then the uvula. Genetic, environmental and toxic factors are all possible causes.
Diagnostic methods
Although bifid uvula is usually isolated, it can also been seen in syndromic forms. Usually discovered by chance, it is important to eliminate any association with a submucous cleft velum. A submucous cleft velum is a specific form of cleft palate where a cleft in the muscular tissue is covered by the oral and nasal mucosa.
Management and treatment
When bifid uvula is isolated, there are no clinical repercussions and it can be considered as a familial genetic trait. In the isolated forms, once an associated submucous cleft has been ruled out, there is no therapeutic management necessary in the absence of clinical manifestations.

                            Last update: 
                            December 2011


                            - Expert reviewer(s): 
                            Dr Eva GALLIANI  - Pr Marie-Paule VAZQUEZ
Bifunctional enzyme deficiency (ORPHA:300)
A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.
Bilateral acute depigmentation of the iris (ORPHA:69736)
Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.
Bilateral frontoparietal polymicrogyria (ORPHA:101070)
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
Bilateral microtia-deafness-cleft palate syndrome (ORPHA:140963)
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.