TaoMedAI/RareMedData huggingface dataset:
Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.
Childhood-onset hypophosphatasia (ORPHA:247667)
A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.
Epidemiology
The prevalence is unknown. About 130 cases have been reported to date.
Clinical description
Patients develop manifestations after six months of age and generally before five years of age. Clinical manifestations cover a wide spectrum. Commonly, patients have rickets leading to short stature, with delay in walking and a waddling gait, and bone and joint pain. Skeletal deformities may include dolichocephalic skull and enlarged joints. Other common features are signs of intracranial hypertension and failure to thrive. Diaphyseal and metaphyseal fractures are common. Some affected children have premature loss of deciduous teeth, starting with incisors and then loss of other teeth with intact roots, before five years of age. The disease may follow an intermittent course with remission and recurrence in later life. There may be some clinical overlap between childhood-onset HPP and moderately severe infantile HPP.
Etiology
Mutations in the ALPL gene (1p36.12) are known to cause hypophosphatasia.
Diagnostic methods
Diagnosis is based on clinical presentation, alkaline phosphatase assay and confirmed by genetic testing.
Differential diagnosis
Osteogenesis imperfecta is the most common differential diagnosis of HPP.
Genetic counseling
Autosomal recessive and autosomal dominant patterns of inheritance are reported, potentially explaining clinical variability. Genetic counseling is recommended for affected individuals.
Management and treatment
Treatment has traditionally been supportive rehabilitative strategies to minimize functional limitations, and surgery to manage some fractures. However, there is evidence that enzyme replacement therapy with asfotase alfa, approved for pediatric onset HPP (Europe and USA), improves function in childhood-HPP.
Prognosis
Affected individuals may have significant disease, with poor mobility, chronic pain, and short stature. In addition, significant rickets, long bone deformity, and non-traumatic fractures are possible. Fractures may heal poorly and can reoccur.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Severine BACROT  - Dr Etienne MORNET
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.
Childhood-onset nemaline myopathy (ORPHA:171439)
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births.
Clinical description
Childhood onset NM might represent 10-15% of total cases. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness.
Etiology
This form of NM is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes.
Genetic counseling
Transmission follows an autosomal dominant pattern.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr Monique RYAN
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome (ORPHA:466921)
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.
Childhood-onset spasticity with hyperglycinemia (ORPHA:401866)
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.
CHIME syndrome (ORPHA:3474)
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
Epidemiology
Prevalence is unknown. To date, CHIME syndrome has been described in 8 cases.
Clinical description
CHIME syndrome is characterized by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability, and characteristic facial features: brachycephaly, mild upslanting of the palpebral fissures, pale blue irides, hypertelorism, flat midface and philtrum, anteverted nostrils, thin upper lip, and excessive creases around a wide mouth. Ears are low-set with thick overfolded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent (bifid uvula and/or submucous cleft), cardiac defects (tetralogy of Fallot or transposition of the great vessels), pectus excavatum and supernumerary nipples.
Etiology
CHIME syndrome is caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            October 2013
Choanal atresia, bilateral (ORPHA:137920)
A rare, usually sporadic, congenital nose and cavum anomaly characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. It is caused by blockade of the nose on both sides by bony or soft tissue formed during embryological development.
Choanal atresia, unilateral (ORPHA:137917)
A rare, usually, sporadic congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (ORPHA:589856)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported.
Choledochal cyst (ORPHA:480501)
A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.
Cholestasis-lymphedema syndrome (ORPHA:1414)
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
Cholesteryl ester storage disease (ORPHA:75234)
A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
Chondrodysplasia punctata, tibial-metacarpal type (ORPHA:79346)
A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.
Chondrodysplasia punctata, Toriello type (ORPHA:79347)
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.
Chondrodysplasia with joint dislocations, gPAPP type (ORPHA:280586)
A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.
Chondrodysplasia-difference of sex development syndrome (ORPHA:1422)
A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.
Chondroectodermal dysplasia with night blindness (ORPHA:319195)
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.
Chondromyxoid fibroma (ORPHA:404507)
A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.
Chondrosarcoma (ORPHA:55880)
Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.
Chordoid glioma (ORPHA:251674)
Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.
Chordoma (ORPHA:178)
Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.
Epidemiology
They are predominantly found in adults, and comprise 0.2% of all central nervous system tumors and 2-4% of all primary bone neoplasms, with an estimated prevalence of 1 in 2 million people and a male-to-female ratio of 2:1.
Clinical description
The clinical presentation depends entirely on the location of the chordoma. The main possible locations are the sacrum, intracranially at the clivus and along the spinal axis. When the tumor is intracranial, the most common presenting symptoms are diplopia, swallowing problems and headache. Other neurologic signs also occur, primarily as cranial nerve palsies. Tumors in the spine can cause pain in the area of the tumor (neck, back or tailbone), as well as arm or leg pain, weakness or numbness, bladder and intestinal disturbances. Chordomas are characterized by slow growth, with local destruction of the bone and extension into the adjacent soft tissue. They can metastasize to lymph nodes, lungs, liver and bone.
Diagnostic methods
Diagnosis is made by radiography, computed tomography or magnetic resonance imaging.
Management and treatment
Treatment should be undertaken by expert neurosurgical and radiation oncology teams. Surgery is the primary mode of treatment but excision often remains incomplete despite repeat operations. Radiation in combination with surgery is then often used. High radiation doses (i.e. with proton beams) are required for local control. The role of chemotherapy or targeted therapies is still under investigation.
Prognosis
Prognosis depends on the extent and completeness of the tumor excision. Long-term follow-up is required because of the high rate of recurrence of these tumors.

                            Last update: 
                            November 2006


                            - Expert reviewer(s): 
                            Pr Ross PINKERTON
Choriocarcinoma of the central nervous system (ORPHA:252015)
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.
Choroid plexus carcinoma (ORPHA:251899)
Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.
Choroidal atrophy-alopecia syndrome (ORPHA:1433)
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
Christianson syndrome (ORPHA:85278)
A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.
Epidemiology
Christianson syndrome (CS) prevalence is estimated to affect 1 in 16,000 to 100,000 males worldwide.
Clinical description
Affected males diagnosed with CS typically present with the following core diagnostic features: nonverbal status, intellectual disability (ID), epilepsy, ataxia, postnatal microcephaly, and hyperkinesis. Seizures typically occur prior to the age of three. Secondary symptoms include behaviors associated with autism, Angelman syndrome features, eye movement problems (e.g. strabismus), hypotonia, gastroesophageal reflux disease (GERD), regressions (especially after the 1st decade of life), low height and/weight (progressing with age), and cerebellar vermal atrophy (particularly after the 1st decade). Females with heterozygous NHE6 mutations may present with a wide ranging phenotype ranging from unaffected to more severe neurologic/psychiatric manifestations.
Etiology
Christianson syndrome is caused by loss-of-function mutation of the SLC9A6 gene (Xq26.3), which encodes the endosomal Na+/H+ Exchanger 6 (NHE6) protein.
Diagnostic methods
CS diagnosis is confirmed by molecular genetic testing. Core diagnostic symptoms include nonverbal status, ID, epilepsy, ataxia, postnatal microcephaly, and hyperkinesis.
Differential diagnosis
Differential diagnoses include Angelman syndrome and ID (especially if it appears to follow an X-linked pattern).
Antenatal diagnosis
Prenatal genetic testing is possible if the familial mutation is known.
Genetic counseling
Genetic counseling is advised. Heterozygous females have a 50% risk of transmitting the pathogenic variant in pregnancy.
Management and treatment
Management of symptoms associated with seizures, ID/developmental delay, motor deficits, feeding difficulties, and/or eye problems is common. No specific treatment exists.
Prognosis
Progressive symptoms appear to progress as males age, especially after the 1st decade of life. These include regressions (e.g. walking, talking, and fine/gross motor skills), cerebellar atrophy, and low height/weight. Despite reports of premature mortality in CS males (i.e. ranging from approximately 20-50 years), life expectancy is currently unknown.

                            Last update: 
                            April 2020


                            - Expert reviewer(s): 
                            Dr Eric MORROW
Chromomycosis (ORPHA:182)
Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.
Chromophobe renal cell carcinoma (ORPHA:319303)
Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.
Chronic actinic dermatitis (ORPHA:330064)
Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.
Chronic atrial and intestinal dysrhythmia syndrome (ORPHA:435988)
A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.
Chronic bilirubin encephalopathy (ORPHA:529808)
A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.
Chronic cutaneous lupus erythematosus (ORPHA:163531)
A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.