TaoMedAI/RareMedData huggingface dataset:
Calciphylaxis (ORPHA:280062)
A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting.
Epidemiology
Calciphylaxis typically affects patients with end-stage kidney disease (ESKD) treated with dialysis. Incidence amongst patients on hemodialysis varies worldwide, ranging from 0.35 % in the USA to less than 0.03% in Japan. A report suggests an increasing incidence in the USA. The incidence in kidney-transplant recipients and in patients without ESKD, including among those with earlier stages of chronic kidney disease, is unknown. Approximately 60 to 70% of patients with calciphylaxis are women.
Clinical description
The average age at the time of diagnosis is reported between 50 to 70 years; very few patients are children. Patients with calciphylaxis typically present with painful skin lesions. The pain is typically severe and there is associated tactile hyperesthesia. The initial manifestations may include skin induration, plaques, nodules, livedo, or purpura. The initial lesions rapidly progress to stellate ulcers with black eschars. Sepsis originating from the resultant wounds is considered the most common cause of death. Rarely, diffuse precipitation of calcium in viscera occurs (mainly in the heart or lungs, but also in the stomach or kidneys) which may lead to fibrosis and thrombosis, and eventually tissue necrosis. Depending on the affected organ, patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. More than 70% of patients with calciphylaxis require hospitalization for severe ulcers.
Etiology
The exact pathogenesis of calciphylaxis remains unclear. In addition to ESKD, warfarin use has been described as a major risk factor for calciphylaxis.
Diagnostic methods
Diagnosis is suspected on clinical presentation. Skin biopsy may facilitate exclusion of conditions that mimic calciphylaxis.
Differential diagnosis
Differential diagnosis includes warfarin necrosis, peripheral arterial disease, and oxalosis.
Management and treatment
There is no approved treatment for calciphylaxis. Treatment focuses on pain control, wound management, and mitigation of risk factors. Off label treatments like sodium thiosulfate are frequently used clinically.
Prognosis
Quality of life of patients with calciphylaxis is extremely poor. Once calciphylaxis develops then the patients suffer from substantial morbidity related to pain, wounds and limited mobility, and many die within the first year of disease onset.

                            Last update: 
                            October 2021


                            - Expert reviewer(s): 
                            Dr Sagar NIGWEKAR
Calpain-3-related limb-girdle muscular dystrophy D4 (ORPHA:565909)
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory.
Calpain-3-related limb-girdle muscular dystrophy R1 (ORPHA:267)
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
Calvarial doughnut lesions-bone fragility syndrome (ORPHA:85192)
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.
CAMOS syndrome (ORPHA:83472)
A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
Campomelia, Cumming type (ORPHA:1318)
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
Epidemiology
The syndrome has been reported in eight infants from four different families.
Clinical description
Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia (see this term), lung hypoplastia, short bowel. All newborns reported so far were either stillborn or died shortly after birth.
Genetic counseling
In one of the affected families, three sibs with identical features born to first-cousin parents have been reported, suggestive of autosomal recessive mode of inheritance.

                            Last update: 
                            July 2009


                            - Expert reviewer(s): 
                            Pr Raoul HENNEKAM
Camptobrachydactyly (ORPHA:1319)
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
Camptodactyly of fingers (ORPHA:295016)
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.
Camptodactyly syndrome, Guadalajara type 1 (ORPHA:1327)
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
Epidemiology
To date only eight cases have been reported in the literature.
Clinical description
Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed.
Genetic counseling
The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.

                            Last update: 
                            October 2010
Camptodactyly syndrome, Guadalajara type 2 (ORPHA:1326)
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
Camptodactyly syndrome, Guadalajara type 3 (ORPHA:488434)
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (ORPHA:2848)
A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome (ORPHA:1321)
An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.
Camptodactyly-joint contractures-facial skeletal defects syndrome (ORPHA:1323)
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
Camptodactyly-tall stature-scoliosis-hearing loss syndrome (ORPHA:85164)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
Camptodactyly-taurinuria syndrome (ORPHA:1325)
Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
Canavan disease (ORPHA:141)
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Epidemiology
The disease has been reported worldwide, but is more frequent in Ashkenazi Jewish populations. The incidence of severe CD in the non-Jewish population has been estimated at approximately 1:100,000 births. If both parents are of Ashkenazi Jewish descent, the incidence is 1:6,400 to 1:13,500 births. The main form of CD is the severe form.
Clinical description
Two forms of CD are clinically distinguishable: severe Canavan disease with onset in the neonatal period or infancy, and mild Canavan disease diagnosed in children (see these terms).In the severe form, patients have severe hypotonia, developmental delay and other neurologic impairments, and a very high N-acetyl-L-aspartic acid (NAA) concentration in urine, blood and cerebrospinal fluid. In mild Canavan disease, there can be mild developmental delay, problems with speech or achievement at school and urine NAA is slightly elevated.
Etiology
CD is caused by mutations in the ASPA gene (17p13.3), coding for the aspartoacylase enzyme. Numerous mutations have been identified, and subsequent enzymatic activity is either low or totally absent. In Ashkenazi Jews, two common mutations have been identified. Mild forms of Canavan disease are usually compound heterozygotes with one mild and one severe mutation.
Prognosis
Prognosis is variable. In severe Canavan disease, life expectancy is reduced with average survival until 10 years or occasionally longer. In mild Canavan disease, life expectancy is usually normal and the prognosis is good.

                            Last update: 
                            December 2012


                            - Expert reviewer(s): 
                            Dr Kimberlee MATALON  - Dr Reuben MATALON
CANOMAD syndrome (ORPHA:71279)
A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.
Epidemiology
The disease is rare with less than 100 cases reported in the literature. The disease predominantly affects males with a ratio of 3:1 (males:females).
Clinical description
The condition appears in adult or elderly age with a median age at onset of 55 years. The clinical picture comprises a chronic neuropathy with marked sensory ataxia and hyporeflexia/areflexia. Patients have relatively preserved motor function in the limbs, although some may develop distal weakness. The clinical manifestations may be fixed, progressive or relapsing-remitting. Electrophysiology and nerve pathology show demyelinating, axonal, or combined demyelinating and axonal features. Nerve ultrasound shows regional nerve enlargement, a finding consistent with acquired demyelination.
Etiology
The etiology remains incompletely characterized. Evidence suggests direct damage to dorsal root ganglia (DRG) and to the nodal axolemma. It is generally accepted that antibodies against gangliosides are pathogenic. The IgM accounting for the anti-ganglioside activity is almost invariably in the form of an IgM paraprotein, which may also have cold agglutinin activity.
Diagnostic methods
The diagnosis is based on the identification of typical clinical and electrodiagnostic features, IgM antibodies to disialosyl antibodies (i.e. GD1b), cold agglutinins and an IgM monoclonal gammopathy.
Differential diagnosis
Differential diagnosis includes other inflammatory peripheral neuropathies, particularly chronic inflammatory demyelinating polyneuropathy, as well as vascular and demyelinating brainstem lesions.
Management and treatment
Rituximab and/or intravenous immunoglobulin (IVIg) are effective in most patients. IVIg may prevent relapses in responsive patients while rituximab may be most effective in halting disease progression. While there is no clear evidence to support a disease-specific dosing regimen for either agent, commonly utilized regimens for other forms of immune-mediated peripheral nervous system disease have been effective.
Prognosis
The functional outcome is generally guarded-to-poor with the majority of patients suffering some degree of permanent disability from the sensory ataxia that defines the illness.

                            Last update: 
                            March 2019


                            - Expert reviewer(s): 
                            Dr Robert BUCELLI  - Dr ROCIO GARCIA-SANTIBANEZ
Cantú syndrome (ORPHA:1517)
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Epidemiology
To date, fewer than 30 cases have been reported.
Clinical description
Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia. Affected individuals have hypertrichosis with thick scalp hair extending onto the forehead and generalized increased body hair. Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. Additional findings in most patients included thickened calvarium, broad ribs and metaphyseal widening of long bones with enlarged medullary canals. Mild intellectual deficiency has been described in several patients.
Etiology
Most cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported.

                            Last update: 
                            January 2010
Cap myopathy (ORPHA:171881)
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Cap polyposis (ORPHA:160148)
A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.
Epidemiology
To date, around 67 cases have been described in the world literature. Females seem to be more affected than males.
Clinical description
The mean age at presentation is 49 years (range 5-79 years) with clinical manifestations including constipation alternating with periods of mucous and bloody diarrhea, associated with rectal bleeding, chronic straining with defecation, tenesmus, abdominal pain, fatigue, and loss of appetite and weight. Some patients may also show lower limb edema due to a protein-losing enteropathy.
Etiology
The etiology of Cap polyposis (CP) is still unclear but various causes including lower colonic mucosal prolapse, mucosal ischemia, inflammation, abnormal colonic motility, repeated trauma to the colonic mucosa caused by straining, infections (such as Helicobacter pylori infection), and immune disorders have been proposed.
Diagnostic methods
The diagnosis of CP relies on colonoscopy which reveals multiple polyps with white muco-fibrinoid caps and a normal intervening mucosa. The lesions are mainly located in the rectum and sigmoid colon. Pathological examination shows a polypoid lesion with an ulcerated cap of fibrin and mucus, elongated tortuous crypts filled with mucoid exudate, and possibly smooth muscle fibers in the mucosa. Laboratory findings may reveal hypoproteinemia, hypoalbuminemia, and severe anemia with low hemoglobin concentration. C-reactive protein (CRP) levels or white blood cell counts are mostly within the normal reference range.
Differential diagnosis
Differential diagnosis includes juvenile polyposis syndrome, Cronkhite-Canada syndrome (see these terms), amoebic dysentery, mucosal prolapse syndrome, and inflammatory bowel disease, primarily ulcerative colitis (with inflammatory polyps).
Management and treatment
CP has been treated empirically using sulfasalazine, 5-aminosalicylic acid, orally or anally administered steroids, metronidazole, quinolone,  Helicobacter pylori  eradication therapy and infliximab. For cases refractory to treatment, polypectomy (for fewer than 10 polyps) or surgical resection (for greater numbers of polyps) may be successful. Patients with predominant straining/constipation symptoms can be treated with laxatives.
Prognosis
CP is not a premalignant condition. The clinical course of CP ranges from spontaneous remission to a disease course requiring surgical resection of the affected bowel segments. However, the recurrence rates are high, particularly if numerous polyps are present.

                            Last update: 
                            May 2016


                            - Expert reviewer(s): 
                            Pr Jean-Alain CHAYVIALLE  - Pr Jean-Christophe SAURIN
Capillary malformation-arteriovenous malformation (ORPHA:137667)
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
Epidemiology
So far, it has been described in multiple members of six families.
Clinical description
The CMs are atypical: they are small, round-to-oval in shape and pink-red in colour. AVMs may be cutaneous, subcutaneous, intramuscular, intraosseous or cerebral. The association of CM with arteriovenous fistulas or Parkes-Weber syndrome (see this term) was reported in some cases.
Etiology
The syndrome is caused by heterozygous mutations in the RASA1 gene (5q13.3), encoding RAS p21 protein activator 1.

                            Last update: 
                            April 2008
CAR T cell therapy-associated cytokine release syndrome (ORPHA:542323)
A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS).
Carcinofibroma of the corpus uteri (ORPHA:213605)
Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.
Carcinoid syndrome (ORPHA:100093)
A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.
Carcinoma of esophagus, salivary gland type (ORPHA:418945)
A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct‐lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.