TaoMedAI/RareMedData huggingface dataset:
Autosomal spastic paraplegia type 72 (ORPHA:401849)
A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.
Autosomal systemic lupus erythematosus (ORPHA:300345)
A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.
Avian influenza (ORPHA:454836)
A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.
Axenfeld anomaly (ORPHA:98978)
A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
Axial mesodermal dysplasia spectrum (ORPHA:1834)
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
Axial spondylometaphyseal dysplasia (ORPHA:168549)
Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy (ORPHA:209004)
A rare acquired peripheral neuropathy characterized by symmetric, slowly progressive, predominantly sensory neuropathy, mostly limited to the legs with numbness and paresthesia of the distal leg and mild imbalance. Some patients may experience pain, weakness of foot dorsiflexion, mild proximal leg weakness, and/or upper limb involvement. The majority of patients have IgG monoclonal gammopathy. Systemic illnesses are absent in most cases.
Aymé-Gripp syndrome (ORPHA:1272)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.
Azygos continuation of the inferior vena cava (ORPHA:99121)
A rare vascular anomaly characterized by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.
B-cell chronic lymphocytic leukemia (ORPHA:67038)
B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome (ORPHA:567502)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.
B-cell prolymphocytic leukemia (ORPHA:86852)
A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.
B4GALT1-CDG (ORPHA:79332)
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
Bacterial myositis (ORPHA:206994)
A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.
Bacterial toxic-shock syndrome (ORPHA:36234)
Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS (see this term) or Streptococcus pyogenes in streptococcal TSS (see this term).
Epidemiology
The worldwide prevalence is estimated at 1/30, 000.
Clinical description
The disease affects mainly young adult women with no previous medical conditions. However, non-menstrual TSS, which can also be observed in men and children, represents up to 50% of Staphylococcal TSS cases. Onset is sudden and includes high fever (>38.9°C), nausea, diarrhea, vomiting, myalgia, abdominal pain and sore throat. Staphylococcal TSS almost always exhibits an erythematous rash and skin peeling as one of its manifestations, whereas it is very rarely seen in streptococcal TSS, which can show signs of soft tissue infection. Serious manifestations include confusion, shock, renal and myocardial dysfunction, acute respiratory distress syndrome (ARDS; see this term) and coma.
Etiology
Staphylococcal TSS is due to an infection with Staphylococcus aureus and streptococcal TSS is due to an infection with Streptococcus pyogenes, or rarely, group C or G Streptococcus. Superantigens produced by both bacteria are responsible for the massive and sudden immune reaction seen in TSS. Both forms have been associated with recent traumas (surgery or childbirth) and viral infections, while staphylococcal TSS has also been associated with high absorbency tampon use.

                            Last update: 
                            November 2015


                            - Expert reviewer(s): 
                             Claude-Alexandre GUSTAVE  - Pr Gerard LINA  - Dr Anne TRISTAN
Balantidiasis (ORPHA:1223)
Balantidiasis is an infectious disease, rare in western countries. It is caused by Balantidium coli, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.
Balint syndrome (ORPHA:363746)
Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.
Baló concentric sclerosis (ORPHA:228165)
A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.
Bangstad syndrome (ORPHA:1227)
Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
Banki syndrome (ORPHA:1228)
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.
BAP1-related tumor predisposition syndrome (ORPHA:289539)
BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
Barber-Say syndrome (ORPHA:1231)
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
Epidemiology
BBS is a rare entity described in eleven patients to date.
Clinical description
BBS presents with congenital generalized hypertrichosis, facial dysmorphism (typically with bilateral ectropion, absent or sparse eyebrows and lashes, hypertelorism/telecanthus, broad nasal bridge, bulbous nose, anteverted nostrils, macrostomia, thin lips and misshapen ears), hyperlaxity and redundancy of the skin with deep folds, nipple hypoplasia and absence of mammary glands. Teeth are present, but with overgrown gingiva. Dental abnormalities described include taurodontism, shovel-shaped incisors, delayed eruption of deciduous dentition and premature apical closure. Other less frequent findings include cleft palate, hearing loss, mild psychomotor delay and genital abnormalities.
Etiology
Autosomal dominant and autosomal recessive transmission, as well as sporadic cases have been reported.

                            Last update: 
                            January 2014
Baroreflex failure (ORPHA:443084)
A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.
Bartonella bacilliformis infection (ORPHA:64692)
A rare bacterial infectious disease transmitted between humans via bites from infected sand flies in high-altitude valleys of the South American Andes, characterized by two disparate syndromes which can arise independently or sequentially. The first, Oroya fever, occurs about 60 days after the fly bite as a severe hemorrhagic fever with high mortality in untreated individuals. The second, chronic phase, termed verruga peruana, can persist for months or years and manifests with endothelial cell-derived, blood-filled tumors developing on the surface of the skin.
Bartsocas-Papas syndrome (ORPHA:1234)
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
Bartter syndrome type 5 (ORPHA:570371)
A form of antenatal Bartter syndrome characterized by early maternal polyhydramnios, excessive renal salt loss with secondary metabolic alkalosis in the neonatal period that completely disappears within the first months of life.
Bathing suit ichthyosis (ORPHA:100976)
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.
Epidemiology
Less than 20 patients are reported in the literature.
Clinical description
This particular skin aspect appears after the sheading of a collodion membrane observed at birth. Contrarily to other forms of ARCI, the members (in exception of the folds) and the face are not affected by ichthyosis. Scales are present on warmer skin areas such as the trunk, the scalp, and the axillary region. On affected areas, the patient present with large dark scales similar to those observed in lamellar ichthyosis (LI).
Etiology
BSI is caused by specific thermo-sensitive mutations in the TGM1 gene (encoding transglutaminase 1, involved in the cornification of the stratum corneum). Affected skin areas (warmer areas), show a clearly reduced enzyme activity in contrast to healthy skin areas that demonstrate an almost normal enzyme activity. Transmission is autosomal recessive.

                            Last update: 
                            January 2012


                            - Expert reviewer(s): 
                            Pr Juliette MAZEREEUW-HAUTIER
Bazex syndrome (ORPHA:166113)
A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies).
Epidemiology
To date, approximately 150 cases have been described in the literature. The syndrome most commonly affects males over 40 years of age (mean age of onset: 61 years), and < 10% of cases affect women.
Clinical description
Patients present with symmetrical, acral, erythemato-squamous psoriasiform eruptions. The most common sites of involvement are the ears, nails, nose, fingers, hands, and feet. Isolated involvement of the helices of the ears, or involvement of the tip of the nose, the distal fingertips, or nails (usually the first sign of the disease), is typical in the early stages of the disease. Lesions may extend to the cheeks, elbows, knees and trunk as the disease progresses. The lesions can be asymptomatic but pain and pruritus can occur in about 20% of cases. Histological findings are not specific and include psoriasiform epidermal hyperplasia, hyperkeratosis with parakeratosis, and perivascular lymphocytic infiltrates in the dermis. In 70% of the cases, the cutaneous lesions precede the symptoms or diagnosis of the malignancy, which is most often a squamous cell carcinoma involving the upper aerodigestive tract.
Etiology
The pathogenesis of Bazex syndrome remains unclear. It may be caused by the production of epidermal growth factor by tumor cells or by cross-reactivity between epidermal and tumor antigens.
Diagnostic methods
Diagnosis is based on clinical and histological findings. Complete evaluation of the upper aerodigestive tract should be performed to identify the underlying malignancy.
Differential diagnosis
Differential diagnoses include psoriasis, allergic contact dermatitis, photosensitivity, dermatomyositis, drug eruption, cutaneous lupus erythematosus and mycosis.
Management and treatment
The dermatosis may respond to acitretin alone or to a combination of acitretin and UVA phototherapy. Oral and topical steroids have also been reported as effective for the treatment of lesions. Cutaneous lesions regress with the treatment of the underlying malignancy, whereas nail lesions may persist. Recurrence of skin lesions in a successfully treated patient implies a recurrence of the malignancy.
Prognosis
Prognosis is related to the underlying neoplasm.

                            Last update: 
                            April 2024


                            - Expert reviewer(s): 
                            Pr Arda ISIK
Bazex-Dupré-Christol syndrome (ORPHA:113)
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
Epidemiology
So far, 143 cases have been reported, mostly from France and Belgium.
Clinical description
The disease manifests during the neonatal period or during infancy. It is characterized by hypotrichosis, hypohidrosis, milia and basal cell carcinomas of early onset. Follicular atrophoderma is frequent and most common on the dorsum of the hands and feet, the extensor surfaces of the elbows and knees, and the face. Hypotrichosis affects the scalp and sometimes the eyebrows. The milia papules and basal cell carcinomas are located predominantly on the face. Basal cell carcinomas develop in 40% of patients, usually during the 2nd or 3rd decade of life. Additional common features include basal cell hamartomas, trichoepitheliomas and, in very rare cases, atopy, keratosis pilaris, ichthyosis, arachnodactyly with joint hyperlaxity, osteochondritis, deafness and learning difficulties.
Etiology
The gene has been mapped to the long arm of the X chromosome, within the Xq24-q27.1 region. UBE2A (Xq24), encoding a protein involved in repair of UV-damaged DNA, has been proposed as a candidate gene.
Differential diagnosis
The differential diagnosis should include Gorlin syndrome, which also leads to multiple basal cell carcinomas of early onset, and X-linked dominant chondrodysplasia punctata (see these terms) in which follicular atrophoderma may also be observed. Rombo syndrome and generalized basaloid follicular hamartoma syndrome (see these terms) should also be included in the differential diagnosis.
Genetic counseling
Transmission is X-linked dominant.
Management and treatment
Management involves photoprotection and early detection of basal cell carcinomas. Surgical intervention, and sometimes cryosurgery or topical imiquimod, are indicated for basal cell carcinomas. Radiotherapy is contraindicated.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Dr Jean-Noël DAUENDORFFER  - Pr Philippe SAIAG
Becker nevus syndrome (ORPHA:64755)
A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.
Beemer-Ertbruggen syndrome (ORPHA:1237)
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.
Behavioral variant of frontotemporal dementia (ORPHA:275864)
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.