TaoMedAI/RareMedData huggingface dataset:
Cylindrical spirals myopathy (ORPHA:171886)
Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
Cyprus facial-neuromusculoskeletal syndrome (ORPHA:2674)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992.
Cystadenoma of childhood (ORPHA:206470)
A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.
Cystathioninuria (ORPHA:212)
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.
Cystic echinococcosis (ORPHA:400)
A rare parasitic disease characterized by slowly enlarging cysts of the liver, lungs and other organs which often go unnoticed for years. They are caused principally by the larval form (also called metacestode) of Echinococcus granulosus sensu lato tapeworm. The adult form of this tapeworm parasitizes the intestine of dogs. Cystic echinococcosis (formerly hydatidosis) generally affects large domestic herbivores and humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.
Epidemiology
The reported annual incidence of human infection in Europe is around 0.15 per 100 000 population. The disease is much more common worldwide, with overall prevalence ranging from 2.1 per 100 000 in China to 1.7% (with a 95% confidence interval between 1.1-2.6) in African countries.
Clinical description
After ingestion, the larvae develop very slowly, forming cysts that are not diagnosed until 5 to 20 years after contamination. The liver (60% of cases), lungs (20% of cases) and other organs (kidneys, spleen, brain, etc.) are the principle sites of cyst formation. When symptoms exist, they are unspecific and depend on the affected organs. They include abdominal pain, malaise, nausea, vomiting, weight loss. Chronic cough, chest pain and shortness of breath can occur in cases of pulmonary cyst. The disease is often asymptomatic but can become fatal if left untreated for years.
Etiology
It is caused by the larval form (called metacestode) of the tapeworm Echinococcus granulosus.
Diagnostic methods
Diagnosis is mainly based on imaging (abdomen, thorax, etc.) and serologic testing. Cyst type (i.e development stage) should be determined using ultrasound and/or MRI: active (CE1, CE2), transitional (CE3a, CE3b) or inactive (CE4, CE5).
Differential diagnosis
The differential diagnosis includes solitary simple liver cyst, polycystic liver disease and neoplastic liver cyst (cystadenoma and cystadenocarcinoma).
Management and treatment
A stage-specific approach is recommended, based on cyst stage, size, location, presence/absence of complications as well as available medical expertise and equipment. Treatment may involve radical surgery or percutaneous treatments associated with short term antiparasitic treatment with benzimidazoles (BMZ), benzimidazoles alone or watch-and-wait approach (follow-up without treatment, for inactive cysts).
Prognosis
The main risk is fissure or rupture of the cyst, associated with allergic/anaphylactic reaction and dissemination of the parasite. Recurrence after surgical or radiological procedure could also occur. Attributable mortality is low (1-2%) and mainly linked to disseminated and/or atypical forms (in the bone or brain).

                            Last update: 
                            August 2023


                            - Expert reviewer(s): 
                            Pr Frédéric GRENOUILLET
Cystic fibrosis-gastritis-megaloblastic anemia syndrome (ORPHA:2575)
A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
Cystic hamartoma of lung and kidney (ORPHA:2111)
Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.
Cystic leukoencephalopathy without megalencephaly (ORPHA:85136)
Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
Cysticercosis (ORPHA:1560)
Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.
Cystoid macular dystrophy (ORPHA:75381)
Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.
Cytophagic histiocytic panniculitis (ORPHA:94087)
Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.
Epidemiology
The exact prevalence is unknown, but less than 100 cases have been reported (mostly middle-aged and elderly patients).
Clinical description
The histiocytic infiltration often involves lymph nodes, bone marrow and other tissues of the reticuloendothelial system. Severe fever, malaise, pancytopenia, hepatosplenomegaly, and mucosal ulcers are common systemic symptoms.
Etiology
The etiology remains unclear. In more than 50% of cases, the disease occurs in immunocompromised patients (those with immunodeficiency, autoimmune disease or hematological disease) and is triggered by an infection (mainly with a virus from the herpes-virus family).
Diagnostic methods
Diagnosis relies on the histological features of fat infiltration.
Differential diagnosis
Differential diagnosis includes malignant histiocytosis and virus-associated hemophagocytic syndrome, as well as systemic Weber-Christian panniculitis (see these terms). A search for subcutaneous T-cell lymphoma is mandatory.
Management and treatment
Management involves symptomatic treatment and systemic chemotherapy. Combinations of cytotoxic and immunosuppressive drugs have been reported to be efficient. Chemotherapy followed by stem cell rescue should be considered in severe cases.
Prognosis
Although remissions have been reported, the disease tends to follow a chronic course often complicated by terminal hemorrhagic diathesis and organ system failure.

                            Last update: 
                            June 2007


                            - Expert reviewer(s): 
                            Pr Giovanna ZAMBRUNO
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (ORPHA:477787)
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.
Czeizel-Losonci syndrome (ORPHA:2437)
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.
D,L-2-hydroxyglutaric aciduria (ORPHA:356978)
A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.
D-glyceric aciduria (ORPHA:941)
A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.
Dahlberg-Borer-Newcomer syndrome (ORPHA:1563)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.
Dandy-Walker malformation-postaxial polydactyly syndrome (ORPHA:1566)
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.
Danon disease (ORPHA:34587)
A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males).
Epidemiology
More than 100 families have been described in the literature so far.
Clinical description
The disease classically manifests in males at a median age of 13-14 years. The clinical picture may be severe in both sexes, but onset generally occurs later in females and disease progression tends to be slower in females.
Etiology
The disease is caused by mutations in the LAMP2 gene, localised to Xq24. The LAMP2 protein is an essential component of the lysosomal membrane and appears to play a role in autophagosome-lysosome fusion and the cellular process of autophagy. Originally the condition was classified as a 'glycogen storage disease' reflecting elevated glycogen visible on histological analysis; however, as the condition is not due to a specific defect in glycogen storage, the name Danon disease is currently preferred.
Diagnostic methods
The main diagnostic method is molecular genetic testing for identification of loss-of-function variants in LAMP2. Histological and/or electron microscopy findings of cytoplasmic vacuoles and increased cellular glycogen levels can be suggestive of the diagnosis. Exclusion of Pompe disease should be done if LAMP2 molecular testing is non-conclusive. Staining of LAMP-2 protein revealing reduced or absence in males heart, muscle, lymphocytes, may also be performed for diagnosis, but is not widely available clinically. Identification of a LAMP2 pathogenic variant in a proband allows cascade testing of other at-risk relatives.
Differential diagnosis
The differential diagnosis should include X-linked myopathy with excessive autophagia (XMEA) and glycogen storage disease type 2.
Antenatal diagnosis
Antenatal diagnosis of at-risk pregnancies can be done if a known LAMP2 pathogenic variant has been detected in a parent (typically detected in the mother as males with this disease have reduce reproductive fitness).
Genetic counseling
Genetic counseling is recommended for the X-linked inheritance pattern seen in the disease.
Management and treatment
There is no specific treatment for this disease. Symptomatic treatment is required for the cardiac manifestations and patients may require a heart transplant.
Prognosis
Patients are at risk of sudden death due to arrhythmia and/or heart failure during early adulthood. Death or transplant occurs at median ages in males and females of 19-21 years and 34-38 years, respectively.

                            Last update: 
                            January 2024


                            - Expert reviewer(s): 
                            Dr Eric ADLER  - Dr Matthew TAYLOR
DDOST-CDG (ORPHA:300536)
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene  DDOST  (1p36.1).
DDX41-related hematologic malignancy predisposition syndrome (ORPHA:488647)
A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.
De Barsy syndrome (ORPHA:2962)
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Epidemiology
Prevalence is unknown but around 30 cases have been described in the literature so far.
Etiology
The etiology remains unknown in most cases, however, mutations in the PYCR1 gene (17q25.3) have recently been identified in patients with overlapping phenotypes (wrinkly skin, osteopenia and progeroid features) of DBS, autosomal recessive CL type 2 (ARCL2), wrinkly skin syndrome (WSS), and geroderma osteodysplastica (GO; see these terms).
Diagnostic methods
Histological examination of skin biopsies from DBS patients may reveal characteristic frayed and reduced elastic fibers but patients with normal skin biopsy results have also been reported.
Differential diagnosis
The eye anomalies, athetoid movements and hyperreflexia are distinguishing features of DBS that usually allow this syndrome to be differentiated from GO, ARCL2 and WSS.
Genetic counseling
The condition is transmitted in an autosomal recessive manner.
Management and treatment
Treatment is symptomatic, including early eye-surgery and physiotherapy to avoid contractures.
Prognosis
Patients with DBS have variable outcomes. Some patients die in childhood due to severe neurological dysfunction and intercurrent infections. Many patients diagnosed with PYCR1 mutations show a spontaneous improvement of the progerioid features, and in some children the movement disorder remain non-progressive.

                            Last update: 
                            July 2010


                            - Expert reviewer(s): 
                             M GUILLARD  - Pr D.J. [Dirk] LEFEBER  - Pr Eva MORAVA-KOZICZ  - Pr R.A. [Ron] WEVERS
De novo thrombotic microangiopathy after kidney transplantation (ORPHA:244275)
A rare renal disease characterized by thrombotic microangiopathy developing de novo in kidney transplant recipients with no evidence of occurrence of the disease prior to transplantation. Precipitating factors include antibody-mediated rejection, immunosuppressive medication, viral infections, and genetic abnormalities in the complement cascade, among others. The condition most commonly occurs within the first 3-6 months post-transplantation. Clinical presentation is highly variable and ranges from a limited form confined to the kidney with relatively good prognosis to a systemic variant consisting of the classic triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury.
Deaf blind hypopigmentation syndrome, Yemenite type (ORPHA:3214)
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Epidemiology
The syndrome was described in 1990 in two patients from the same Yemenite family.
Clinical description
A brother and sister were described as having cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma, and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous.
Etiology
The cause of this syndrome has not been determined.
Genetic counseling
The inheritance pattern appears to be autosomal recessive.

                            Last update: 
                            March 2015


                            - Expert reviewer(s): 
                            Dr Véronique PINGAULT
Deafness with labyrinthine aplasia, microtia, and microdontia (ORPHA:90024)
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
Epidemiology
It has been described in 6 families to date.
Clinical description
The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia); microtia type I with small auricle and narrow external auditory canal; and microdontia with widely spaced teeth.
Etiology
Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13).
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            November 2010
Deafness-craniofacial syndrome (ORPHA:3241)
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
Deafness-ear malformation-facial palsy syndrome (ORPHA:3232)
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.
Deafness-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome (ORPHA:254898)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Deafness-epiphyseal dysplasia-short stature syndrome (ORPHA:3218)
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome (ORPHA:3224)
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Deafness-hypogonadism syndrome (ORPHA:90646)
A rare form of syndromic genetic deafness characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.
Epidemiology
It has been described in five related males.
Etiology
Inheritance appeared to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness - hypogonadism is a contiguous gene deletion syndrome.

                            Last update: 
                            May 2009