TaoMedAI/RareMedData huggingface dataset:
Aprosencephaly/atelencephaly spectrum (ORPHA:566847)
A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.
Aquagenic palmoplantar keratoderma (ORPHA:498359)
A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.
Arachnodactyly-abnormal ossification-intellectual disability syndrome (ORPHA:1129)
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
Arachnodactyly-intellectual disability-dysmorphism syndrome (ORPHA:1130)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.
Arachnoid cyst (ORPHA:2356)
A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.
Epidemiology
Studies carried out since the advent of MRI and CT suggest that the prevalence is higher than previously thought, perhaps as high as 1 per 5000. In neurosurgery case series, cysts are more commonly located in the temporo-sylvian fossae. Temporal cysts are significantly more frequent in males than in females (4:1), while cysts in other locations do not show preponderance for a specific gender. A significant predominance of left-sided temporal cysts is found in males (2:1).
Clinical description
Arachnoid cysts may evolve during postnatal life. This malformation may be primitive or may be due to a disturbed flow of cerebrospinal fluid, generated by agenesis of veins.
Etiology
Different mechanisms may explain the increase in volume of the cysts: fluid secretion by cells of the cyst wall, unidirectional valvula or fluid movements secondary to movements of vein walls.
Genetic counseling
Although most diagnosed cases are sporadic, identical arachnoid cysts have been reported in at least three sets of sibs, the parents not being related. In one family, sibs also had microcephaly and intellectual deficit. If mendelian, arachnoid cysts may be an autosomal recessive condition.

                            Last update: 
                            April 2005
AREDYLD syndrome (ORPHA:1133)
A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.
Argentine hemorrhagic fever (ORPHA:319223)
A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.
Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome (ORPHA:3145)
A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.
Argininemia (ORPHA:90)
A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Argyria (ORPHA:60014)
A rare dermatosis, which can be either localized or generalized, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).
Arnold-Chiari malformation type I (ORPHA:268882)
A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.
Aromatase excess syndrome (ORPHA:178345)
A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
Arrhinia-choanal atresia-microphthalmia syndrome (ORPHA:1135)
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
Arterial dissection-lentiginosis syndrome (ORPHA:1682)
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).
Arterial thoracic outlet syndrome (ORPHA:357107)
A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.
Epidemiology
Determination of incidence is difficult due to the lack of a confirmatory test for TOS. ATOS accounts for less than 1% of all cases of TOS.
Clinical description
ATOS occurs spontaneously in patients of all ages and presents with upper extremity ischemia (pain, pallor, anesthesia, coldness, claudication). Rarely subclavian thrombi embolize retrograde causing stroke.
Etiology
Symptoms of ATOS are caused by subclavian artery compression (often by a cervical rib), or emboli. Subclavian artery compression in the neck results in poststenotic dilation, aneurysm formation, turbulent flow and thrombus formation.
Diagnostic methods
Diagnosis is based on a history of upper extremity ischemia and diminished distal pulses or decreased systolic blood pressure in the affected limb. A cervical rib or long cervical transverse process is identified in over 90% of patients. Subclavian stenosis, occlusion or aneurysm on dynamic ultrasonography, magnetic resonance angiography or arteriography supports the diagnosis. Provocative physical exam maneuvers such as the Roos (test is positive when patient is unable to maintain the position of opening and closing hands while arms are in an elevated position for 3 minutes) and Adson's (test is positif if radial pulse disappears while turning the head with extended neck following deep inspiration) tests can also be helpful.
Differential diagnosis
Differential diagnoses include venous and neurogenic TOS (see these terms), peripheral artery disease and other disorders leading to arterial compromise, such as external compression by a tumor. Venous TOS can be ruled out with venous ultrasound or magnetic resonance venography. True neurogenic TOS presents as a lower trunk brachial plexopathy. Patients with PAD have atherosclerotic risk factors. Other external causes of compression can be ruled out with the appropriate cross sectional imaging.
Management and treatment
Acute arterial ischemia is treated with thrombolysis or embolectomy. Surgical decompression is indicated in symptomatic patients. Arterial reconstruction may be necessary. Physical therapy is generally not helpful.
Prognosis
Arterial occlusion is limb threatening, but most patients recover full function when treated appropriately. In 91% of cases, ATOS decompression results in complete resolution of symptoms.

                            Last update: 
                            May 2013


                            - Expert reviewer(s): 
                            Dr Joseph FEINBERG  - Dr Paul SCHOLTEN
Arthrogryposis multiplex congenita-whistling face syndrome (ORPHA:1150)
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
Arthrogryposis multiplex congenita (ORPHA:1037)
A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
Arthrogryposis-anterior horn cell disease syndrome (ORPHA:53696)
A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.
Arthrogryposis-ectodermal dysplasia syndrome (ORPHA:3200)
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.
Arthrogryposis-hyperkeratosis syndrome, lethal form (ORPHA:1485)
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome (ORPHA:1144)
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome (ORPHA:1154)
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
Arthrogryposis-renal dysfunction-cholestasis syndrome (ORPHA:2697)
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
Epidemiology
The prevalence is unknown but less than 100 patients have been reported in the literature so far.
Clinical description
The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting). Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition. Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high arched palate, beaked nose and small anterior fontanelle), diarrhea, recurrent febrile illness, cerebral malformations and sensorineural deafness.
Etiology
Mutations in the VPS33B gene (15q26.1), involved in intracellular protein trafficking and membrane fusion, have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B.
Differential diagnosis
The differential diagnosis should include progressive familial intrahepatic cholestasis disorders, other forms of arthrogryposis multiplex congenita and congenital ichthyosiform dermatoses (see these terms).
Genetic counseling
The syndrome is generally considered to be transmitted as an autosomal recessive trait.
Management and treatment
There is no specific treatment for the disease.
Prognosis
Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay.

                            Last update: 
                            June 2010


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Arthrogryposis-severe scoliosis syndrome (ORPHA:65720)
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.
Asbestos intoxication (ORPHA:2302)
A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.
Ascher syndrome (ORPHA:1253)
A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
Aseptic abscess syndrome (ORPHA:54251)
A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.
Epidemiology
It is a rare disease with approximately 150 patients documented to date, among which 85 cases are in the French aseptic abscess syndrome register.
Clinical description
It affects mainly young adults and is characterized by recurrent attacks of fever and abscess-like collections, most frequently localized in the abdomen. Blood markers of inflammation and polymorphonuclear neutrophil levels are elevated. Aseptic abscesses may be either isolated or associated with an underlying condition (60% of patients) such as inflammatory bowel disease or relapsing polychondritis. The abscesses usually precede the diagnosis of inflammatory bowel disease, possibly by several years. A neutrophilic dermatosis, like pyoderma gangrenosum, may also be observed.
Etiology
The etiology is unknown: all searches for a pathogen, including those using PCR with universal and specific probes, remain negative.
Diagnostic methods
On pathologic examination, aseptic abscesses consist of a core of altered polymorphonuclear leukocytes surrounded by palisading histiocytes and sometimes giant cells.
Differential diagnosis
Aseptic abscess syndrome is a diagnosis of exclusion. The non-exhaustive list of etiologies to be considered and ruled out includes infectious abscesses (primarily pyogenic, as well as Chlamydia, Bartonella, and Tropheryma whipplei), mycobacterial infection, neoplasia (particularly lymphoma), chronic septic granulomatosis, splenic infarction, and inflammatory conditions (such as sarcoidosis, Wegener's disease, or rheumatoid nodules).
Management and treatment
Antibiotics fail to cure the patients, but dramatic improvements are seen with corticosteroids and immunosuppressive drugs, including biologics.
Prognosis
In the short term, once the diagnosis is established, patients undergo a significant transformation following the initiation of treatment, marked by a rapid resolution of fever. In the longer term, aseptic abscess syndrome is characterized by a high frequency of relapses (60% of patients), with the possibility of multiple relapses. Clinicians have at their disposal numerous treatment options, including biologics. Colchicine, typically used in combination with other treatments, has been described as a protective factor against relapse. There has been no recorded death directly related to aseptic abscess syndrome to date.

                            Last update: 
                            October 2023


                            - Expert reviewer(s): 
                            Pr Marc ANDRÉ  - Pr Olivier AUMAITRE  - Dr Ludovic TREFOND
Aspergillosis (ORPHA:1163)
A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
Astley-Kendall dysplasia (ORPHA:85175)
A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.
Astroblastoma (ORPHA:251679)
A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.
Astrocytoma (ORPHA:94)
A complex group of benign and malignant cerebral tumors arising at any age.
Epidemiology
They are the most frequent cerebral tumors and represent more than half of all primary brain tumors. Incidence is estimated at 1/12,500.
Clinical description
The most frequent benign tumors are juvenile pilocytic astrocytomas (grade I) and diffuse low grade or fibrillary astrocytomas (grade II). The most frequent malignant tumors include anaplastic astrocytomas (grade III), glioblastomas (grade IV, the most severe form of astrocytoma; see this term), giant cell glioblastomas and gliosarcomas. Pleomorphic xanthoastrocytomas can be malignant or benign. These tumors occur at all ages although glioblastomas are more frequent in adults and in elderly people, while pilocytic astrocytomas are more frequent in children and adolescents. Age at diagnosis may influence tumor biology and evolution; the outcome generally being better in children. Speed of tumor growth is related to tumor grade. Symptom duration of less than three months is usually seen with malignant tumors.
Etiology
Apart from cranial irradiation, which may itself induce glioblastomas, the underlying causes of these tumors are not known. The principal genetic predisposing syndromes are: neurofibromatosis type 1, Turcot syndrome and Li-Fraumeni syndrome (see these terms). Familial cases of isolated astrocytomas are very rare.
Diagnostic methods
Diagnosis is made after MRI, which reveals an intraparenchymal lesion associated with a mass effect and compression of the normal structures.
Management and treatment
Treatment first consists of surgery, which aims at removing as much of the tumor as possible. If complete, surgical resection may be the only treatment required for benign astrocytomas. Adjuvant treatment is required for malignant tumors, whatever the quality of the resection. In case of incomplete resection of a benign tumor, adjuvant treatment may also be discussed. Radiation therapy is usually used in adults and in children over 10 years of age. Chemotherapy is preferred for younger children and may even be discussed for adults. The most chemosensitive tumors are pilocytic astrocytomas and anaplastic astrocytomas. Pilocytic tumors are highly curable, while malignant tumors are often fatal. The neurologic and intellectual sequelae of these tumors and their treatment may be severe, especially in young children, elderly people and patients requiring extended irradiation. Patient management requires multidisciplinary teams with expertise in the field of brain neoplasms. The relative rarity of these tumors calls for the management of patients in prospective trials aimed at improving prognosis and quality of survival.
Prognosis
Prognosis depends on tumor histology (benign or malignant) and location (operable or not).

                            Last update: 
                            November 2007


                            - Expert reviewer(s): 
                            Dr Jacques GRILL