TaoMedAI/RareMedData huggingface dataset:
Toriello-Carey syndrome (ORPHA:3338)
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
Epidemiology
At least 50 cases have been reported since the first description in 1988.
Clinical description
Main clinical signs include telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence (micrognathia, glossoptosis and cleft palate), abnormally shaped ears, redundant neck skin and features of midline structural abnormalities with agenesis of corpus callosum, laryngeal anomalies and congenital heart defects. Short hands and hypotonia may also be observed. Patients have a moderate to severe intellectual disability.
Etiology
The etiology of Toriello-Carey syndrome is not fully understood, but there is evidence that this is a heterogeneous condition, with chromosome anomalies identified in approximately 20%, and at least two candidate genes identified: MN1 (22q12.1) which has been reported in a microdeletion and SATB2 (2q33.1), interrupted by a de novo balanced translocation in another patient.
Diagnostic methods
Imaging studies of the brain to determine if the corpus callosum is abnormal and physical examination paying particular attention to ocular spacing and palatal structure. A chromosomal microarray is indicated in any child with a Toriello-Carey phenotype.
Differential diagnosis
There are few conditions which include the combination of abnormalities of the corpus callosum and Pierre-Robin sequence. Two such conditions are Aicardi syndrome (in which Robin anomaly is a rare occurrence) and TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) (see these terms).
Antenatal diagnosis
The combination of corpus callosum anomalies and micrognathia should suggest the diagnosis.
Genetic counseling
If a chromosomal microdeletion/duplication has been ruled out, inheritance is autosomal recessive and the recurrence risk is likely 25%.
Management and treatment
Management is supportive.
Prognosis
The syndrome is associated with decreased life span.

                            Last update: 
                            August 2012


                            - Expert reviewer(s): 
                            Dr Helga TORIELLO
Torsade-de-pointes syndrome with short coupling interval (ORPHA:51084)
A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome (ORPHA:3341)
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Toxic epidermal necrolysis (ORPHA:537)
An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving 30% or more of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent.
Toxic maculopathy due to antimalarial drugs (ORPHA:279894)
Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.
Toxin-mediated infectious botulism (ORPHA:230800)
Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).
Epidemiology
Prevalence is unknown. So far, about 4,000 cases have been reported worldwide, infant botulism being the most frequently reported form.
Clinical description
Clinical manifestations are similar to other forms of botulism, in particular those of foodborne botulism (see this term), except for the lack of gastrointestinal symptoms (nausea and vomiting). Fever may be present in wound botulism.
Etiology
Infectious botulism is due to BoNTs produced in vivo after colonization by C. botulinum and, very rarely, by neurotoxigenic strains of C. baratii and C. butyricum. Intestinal botulism is due to intestinal colonization and wound botulism is due to the contamination of a wound, but nowadays affects mainly intravenous drug users (IDUs). After spore germination and toxinogenesis, the toxin is absorbed into the blood stream and distributed throughout the body, causing the typical manifestations of botulism.

                            Last update: 
                            April 2011


                            - Expert reviewer(s): 
                            Dr Michel POPOFF
Toxocariasis (ORPHA:3343)
A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).
Tracheobronchopathia osteochondroplastica (ORPHA:3348)
A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome (ORPHA:592570)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.
Transaldolase deficiency (ORPHA:101028)
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
Epidemiology
Less than ten cases have been reported in the literature so far, all involving children born to consanguineous parents of Turkish and Arabic origin.
Clinical description
Dysmorphic features (downward-slanting palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity of the symptoms and outcome vary widely.
Etiology
The disorder is caused by mutations in the transaldolase gene (TALDO1, 11p15.5-p15.4).

                            Last update: 
                            March 2009
Transcobalamin I deficiency (ORPHA:2967)
A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.
Transgrediens et progrediens palmoplantar keratoderma (ORPHA:495)
A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.
Transient erythroblastopenia of childhood (ORPHA:98871)
A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.
Transient familial neonatal hyperbilirubinemia (ORPHA:2312)
A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.
Transient hypogammaglobulinemia of infancy (ORPHA:169139)
A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.
Transient infantile hypertriglyceridemia and hepatosteatosis (ORPHA:300293)
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.
Transient myeloproliferative syndrome (ORPHA:420611)
A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.
Transient neonatal multiple acyl-CoA dehydrogenase deficiency (ORPHA:329942)
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
Transient neonatal myasthenia gravis (ORPHA:391504)
Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.
Epidemiology
Exact incidence data are not available. The disorder occurs in 10% to 20% of children born to mothers with myasthenia gravis.
Clinical description
In some cases, the mother may be asymptomatic. Severity is generally not correlated with maternal disease but possibly with maternal antibody titers. Onset is usually within the first hours of life. Transient neonatal MG manifests as hypotonia, feeding difficulties, weak cry, facial diplegia and respiratory difficulties in affected neonates. With the gradual decrease in maternally-derived antibodies, the symptoms usually resolve. Subsequent births to the same mother are also at risk of this disorder. Risk factors for the condition are currently not clear. Rapid treatment usually enables resolution of the condition by 2 months of age.
Etiology
The disorder is related to passive transplacental transfer of maternal anti-acetylcholine receptorantibodies (anti-AChR) or anti-muscle-specific tyrosine kinase antibodies (anti-MuSK) to the neonate. Circulating autoimmune antibodies are thought to damage the post-synaptic neuromuscular junction. The fetal onset form is related to antibodies directed against fetal AChR.

                            Last update: 
                            October 2014


                            - Expert reviewer(s): 
                            Dr Sonia BERRIH-AKNIN  - Pr Bruno EYMARD
Transient tyrosinemia of the newborn (ORPHA:3402)
A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants.
Transitional cell carcinoma of the corpus uteri (ORPHA:213746)
A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.
Transketolase deficiency (ORPHA:488618)
A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).
Transverse vaginal septum (ORPHA:180160)
A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.
TRAPPC11-related limb-girdle muscular dystrophy R18 (ORPHA:369840)
A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
Trehalase deficiency (ORPHA:103909)
A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.
Tremor-nystagmus-duodenal ulcer syndrome (ORPHA:3350)
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.
Trench fever (ORPHA:64694)
A rare bacterial infectious disease caused by the louse-borne bacterium Bartonella quintana and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.
Trichinellosis (ORPHA:863)
Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.
Tricho-dento-osseous syndrome (ORPHA:3352)
Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
Epidemiology
The prevalence is unknown but the disease has been described in at least 8 families with over 30 affected members in some large kindreds.
Clinical description
The disease shows significant inter and intrafamilial clinical variation, with enamel hypoplasia and taurodontism being the most consistent features, however, the extent of the enamel defects may also vary between affected family members. The hair and bone manifestations are more variable and age dependent. Curly/kinky hair is present at birth in around 80% of patients, but around half of these patients loose the hair phenotype by adolescence. The BMD measurements show increasing variability with age, particularly in the radius and ulna. In addition, spinal BMD shows an increase with age. Other reported features include flat/brittle fingernails, increased susceptibility for caries and abscesses, delayed dental eruption, tubular sclerosis of the long bones, dolichocephaly (as a result of craniosynostosis), and an absence of mastoid pneumatisation, the frontal sinus and calvarial diploe.
Etiology
The syndrome is caused by mutations in the distal-less homeobox gene (DLX3), located on the long arm of chromosome 17 (17q21.3-q22).
Diagnostic methods
Diagnosis can be made by clinical and radiological examination and confirmed by detection of DLX3 mutations.
Differential diagnosis
The differential diagnosis should include amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism (AIHHT), oculodentoosseous dysplasia (see this term) and the autosomal dominant form of osteopetrosis (see this term).
Genetic counseling
The disease is transmitted as a highly penetrant autosomal dominant trait.
Management and treatment
Treatment is symptomatic and patients require frequent dental follow-up.
Prognosis
The prognosis is good and there appearsto be no predisposition for developing fractures.

                            Last update: 
                            January 2007
Tricho-retino-dento-digital syndrome (ORPHA:1264)
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
Trichodental syndrome (ORPHA:3351)
A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.
Trichodermodysplasia-dental alterations syndrome (ORPHA:3353)
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
Trichodysplasia-amelogenesis imperfecta syndrome (ORPHA:79129)
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.
Trichodysplasia-xeroderma syndrome (ORPHA:3361)
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.