TaoMedAI/RareMedData huggingface dataset:
Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.
Acromesomelic dysplasia, Maroteaux type (ORPHA:40)
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .
Acroosteolysis-keloid-like lesions-premature aging syndrome (ORPHA:363665)
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.
Acrootoocular syndrome (ORPHA:2980)
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
Epidemiology
Only 4 cases have been reported in the literature from 3 inbred sibships.
Clinical description
Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears. Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly. Feet are small with a peculiar shape, wide space between toes 1 and 2 and syndactyly type 1 (see this term). The affected patients have no intellectual deficit.
Genetic counseling
The condition is most probably hereditary, transmitted as an autosomal recessive trait.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Dr Nicole MORICHON-DELVALLEZ
Acropectoral syndrome (ORPHA:85203)
A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.
Acropectorovertebral dysplasia (ORPHA:957)
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).
Epidemiology
It has been described in less than 30 patients from three unrelated families.
Clinical description
Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.
Etiology
The causative gene has been mapped to chromosome region 2q36.
Genetic counseling
This syndrome is transmitted as an autosomal dominant trait with full penetrance.

                            Last update: 
                            January 2007


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Acrorenal syndrome (ORPHA:971)
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
ACTH-dependent Cushing syndrome (ORPHA:99892)
A group of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).
Actinic lichen planus (ORPHA:254395)
A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.
Epidemiology
The exact prevalence is unknown. It is extremely rare in Caucasians but it is more common in dark-skinned populations, particularly in young adults.
Clinical description
Indurated plaques or papules erupt on the face, neck, and the dorsal surface of hands after exposure to ultraviolet (UV) light. Different morphological subtypes have been described: the classic form (violaceous papules), a granuloma annular-like form (annular erythematous hyperpigmented plaques), a dyschromic form (white angular coalescent papules on the neck and dorsa of the hands), and a pigmented melasma-like form (dark patches on the face and neck). There is no mucosal or nail involvement. Histology is characterized by more marked melanin incontinence than in classical lichen planus; there may also be a lighter inflammatory cell infiltrate and focal areas of parakeratosis.
Etiology
Etiology is unknown.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Stephanie ARNOLD  - Dr Susan COOPER
Actinic prurigo (ORPHA:330061)
A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.
Actinomycosis (ORPHA:457095)
A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.
Action myoclonus-renal failure syndrome (ORPHA:163696)
A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
Activated PI3K-delta syndrome (ORPHA:397596)
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.
Acute ackee fruit intoxication (ORPHA:73423)
A rare disorder due to poisoning caused by the ingestion of unripe Blighia sapida fruits, clinically characterized by toxic hypoglycaemia and inhibition of neoglucogenesis.
Epidemiology
The true incidence is unknown and most likely underreported. It is relatively frequent in the Caribbean and Western Africa where the fruit is consumed. In contrast, it is rare in France and other Western countries.
Clinical description
The clinical manifestations are severe and rapidly progressing (delirium, toxic hepatitis, acute dehydration and a state of shock, convulsions, coma) and may lead to death.
Etiology
The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils of the Blighia sapida fruit. When ingested, hypoglycin A is metabolized into (methylenecyclopropyl)acetyl-CoA, which inhibits several enzymes required for beta oxidation of fatty acids and gluconeogenesis.
Diagnostic methods
Diagnosis is based on clinical presentation following consumption of ackee fruit.
Differential diagnosis
Other acute poisonings and acute gastritis are among the differential diagnoses.
Management and treatment
Treatment is symptomatic (administration of glucose, IV or per os)
Prognosis
Although the intoxication is generally benign or has a favourable outcome, ingestion of large doses may lead to death: ackee fruit intoxication lead to 29 deaths in 1998 and more than 50 in 2001.

                            Last update: 
                            October 2023


                            - Expert reviewer(s): 
                            Pr Bruno MÉGARBANE  - Pr Dabor RÉSIÈRE
Acute annular outer retinopathy (ORPHA:284460)
A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.
Acute basophilic leukemia (ORPHA:86849)
A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.
Acute bilirubin encephalopathy (ORPHA:529799)
A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.
Acute disseminated encephalomyelitis (ORPHA:83597)
A demyelinating disorder of the central nervous system.
Epidemiology
The incidence rate has been estimated at 1 in 125,000-250,000 per year.
Clinical description
Children younger than 10 years are predominantly affected. A seasonal winter and spring peaks have been registered. The disease usually develops after acute viral or bacterial infection or vaccination, with a sudden onset of irritability and lethargy after a prodromal period of 1-4 weeks. Major symptoms include fever, headache, drowsiness, changes in mental status, seizures and coma. Weakness, vomiting, weight loss, stiff neck, ataxia, bilateral optic neuritis and delirium are common. Peripheral nervous system involvement (paralysis of a single limb or hemiplegia) occurs in 5-45% of cases, according to literature data. Although initially the symptoms of ADEM may be mild, they worsen rapidly within several hours to four days. Pathologically, ADEM is characterized by bilateral large and confluent lesions in cerebral and cerebellar white matter; basal ganglia and gray matter may also be involved. ADEM lesions in the spinal cord are continuous and extending to multiple levels. Some authors consider the disease as a variant or borderline form of multiple sclerosis (MS) (see this term).
Etiology
ADEM is considered as an immune-mediated disorder of the central nervous system. It can arise spontaneously but in most cases the disease is triggered by infectious disease or vaccinations. Links between the Pasteur rabies vaccine and ADEM have been documented. Immunizations less frequently associated with ADEM include pertussis, measles, Japanese B virus, tetanus, influenza.
Diagnostic methods
Diagnosis is based on the clinical history and magnetic resonance imaging, which is the diagnostic modality of choice.
Differential diagnosis
MS is the main differential diagnosis. The differentiation between ADEM and a first episode of MS can be very difficult but has important prognostic and treatment implications. Differential diagnosis also includes infectious encephalitis, Guillain-Barré syndrome, glioblastoma multiforme, Schilder's disease (see these terms), psychotic disorders with acute onset, toxic/metabolic encephalopathy, vasculitis, nonvasculitic autoimmune encephalopathy, meningitis, metastatic tumor.
Management and treatment
Currently, immunosuppression with corticosteroids for the acute events is the mainstay of treatment. In patients refractory to steroid therapy, plasmapheresis or intravenous immunoglobulin therapy can be used. Symptomatic and supportive treatments are recommended.
Prognosis
ADEM is typically a monophasic (single episode) disease with generally favorable outcome. Average time to recover is one to six months. Relapses may occur in 5-25% of cases, generally 6-18 months after the onset. Fulminant presentation with cerebral edema requiring critical intensive care is rare.

                            Last update: 
                            July 2009
Acute encephalopathy with biphasic seizures and late reduced diffusion (ORPHA:363549)
A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.
Acute erythroid leukemia (ORPHA:318)
A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor.
Acute fatty liver of pregnancy (ORPHA:243367)
A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.
Acute generalized exanthematous pustulosis (ORPHA:293173)
A rare hypersensitivity reaction characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Fever, peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Onset usually occurs 1-12 days after administration of the causal medication and is most frequently associated with beta‐lactam antibiotics, macrolides (including pristinamycin and clindamycin), diltiazem, terbinafine, (hydroxy‐)chloroquine but many other medications have also been implicated. Histology reveals spongiform, subcorneal and/or intraepidermal, pustules but this pattern is not specific (same in pustular psoriasis).
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (ORPHA:466794)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.
Acute infantile liver failure-multisystemic involvement syndrome (ORPHA:370088)
A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.
Acute interstitial pneumonia (ORPHA:79126)
A rare, rapidly progressive, and histologically distinct, form of idiopathic interstitial pneumonia.
Epidemiology
Prevalence of acute interstitial pneumonia (AIP) is estimated at 1 in 25,000.
Clinical description
AIP occurs over a wide age range, with a mean age of approximately 50 years. There is no sex predominance or association with smoking. The onset is acute/subacute (1±3 weeks), with dyspnoea and cough followed by rapid development of respiratory failure and the need for mechanical ventilation in the vast majority of the patients. Fever is present in almost half of the patients on presentation and a history of viral-like symptomatology exists in most cases but extensive investigations for bacterial and viral agents are negative.
Etiology
No etiology is known for AIP. There is no genetic predisposition identified.
Diagnostic methods
The chest radiograph and high-resolution computed tomography (HRCT) scan is abnormal; chest CT manifestations of AIP are bilateral, extensive, and sometimes patchy. They show alveolar densities associated with areas of ground glass attenuation. Consolidation is seen in the majority of cases, but is not as common as ground glass attenuation. Lung biopsies from patients with AIP show histologic features of the acute and/or organising phases of diffuse alveolar damage (DAD). The exudative phase shows oedema, hyaline membranes, and microvascular thrombi. The organising phase shows loose organising fibrosis, mostly within alveolar septa, and type II pneumocyte hyperplasia. The diagnosis of AIP is made in the appropriate clinical setting in a patient who has a clinical, radiological and histopathological presentations compatible with acute respiratory distress syndrome (ARDS) but without a clear etiology.
Differential diagnosis
The differential diagnosis, histologically and clinically, includes acute exacerbation of pulmonary fibrosis, DAD in patients with collagen vascular diseases, DAD of known cause (ARDS), infection (especially Pneumocystis jiroveci pneumonia and legionellosis) and drug-induced pneumonitis, as well as hypersensitivity pneumonitis and acute eosinophilic pneumonia.
Management and treatment
There is no proven treatment, however supportive care with mechanical ventilation, occasionally extracorporeal membrane oxygenation, high-dose corticosteroids, and often intravenous pulse cyclophosphamide, are usually provided.
Prognosis
The prognosis is severe and early mortality is high, with a mortality rate over 50% within six months after onset.

                            Last update: 
                            January 2023


                            - Expert reviewer(s): 
                            Pr Vincent COTTIN
Acute liver failure (ORPHA:90062)
A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis.
Acute macular neuroretinopathy (ORPHA:488239)
A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petalloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.
Acute mast cell leukemia (ORPHA:566393)
A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.
Acute megakaryoblastic leukemia (ORPHA:518)
A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.
Acute monoblastic/monocytic leukemia (ORPHA:514)
A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11).