TaoMedAI/RareMedData huggingface dataset:
Trichofolliculoma (ORPHA:864)
A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome (ORPHA:3363)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
Trichoodontoonychial dysplasia (ORPHA:3355)
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.
Tricuspid valve agenesis (ORPHA:95457)
A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.
Trigeminal neuralgia (ORPHA:221091)
A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.
Trigonocephaly-bifid nose-acral anomalies syndrome (ORPHA:3368)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.
Trigonocephaly-broad thumbs syndrome (ORPHA:3365)
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.
Trigonocephaly-short stature-developmental delay syndrome (ORPHA:3369)
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.
TRIM22-related inflammatory bowel disease (ORPHA:597201)
A rare genetic gastroenterological disease characterized by infantile or childhood onset of severe gastrointestinal inflammation. Patients present with a variable phenotype including fever, diarrhea, failure to thrive, oral ulcers, fistulating perianal disease, strictures, granulomatous colitis, and recurrent bacterial and viral infections.
TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
Triphalangeal thumbs-brachyectrodactyly syndrome (ORPHA:2947)
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.
Triploidy (ORPHA:3376)
Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.
Trismus-pseudocamptodactyly syndrome (ORPHA:3377)
A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.
Trisomy 12p (ORPHA:1699)
A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.
Trisomy 17p (ORPHA:261290)
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Epidemiology
It has been described in fewer than 15 patients.
Clinical description
Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor.
Etiology
Trisomy 17p has been reported to be ``pure'', as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. It can result from a recombination of a familial pericentric inversion, or from a malsegregation of a translocation, in which case trisomy 17p can be associated with monosomy of the partner chromosome.
Diagnostic methods
Diagnosis is based on standard and molecular karyotyping.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Nicole MORICHON-DELVALLEZ
Trisomy 18p (ORPHA:1715)
A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.
Trisomy 1q (ORPHA:261344)
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.
Trisomy 4p (ORPHA:1738)
Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.
Trisomy 5p (ORPHA:1742)
Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.
Epidemiology
To date, more than 40 cases have been reported, the majority in association with another chromosomal anomaly.
Clinical description
Duplication of the 5p13 band determines the characteristic phenotype of trisomy 5p (the critical region): dolichocephaly or scaphocephaly with macrocephaly, oval elongated face, epicanthus, absent malar, long philtrum, ogival palate, macroglossia, dysplasic and low-set ears, micrognathia and short neck. Fingers are long. Patients may have microphthalmia or coloboma of the iris. At birth, the fontanelles are wide. Cerebral malformations (hydrocephalus, agenesis of the corpus callosum or Dandy-Walker malformation) are common. Visceral malformations are rare. Hypotonia is severe. There is a marked susceptibility to infections, especially respiratory infections, which can be life-threatening. Intellectual deficit is severe and may be accompanied by epilepsy. Larger duplications (up to the 5p11 band) have similar dysmorphisms, but more often are associated with failure to thrive, visceral and anorectal malformations, diaphragmatic hernia and club feet. Hydramnios may complicate pregnancy.
Etiology
The duplication may extend towards the centromere, to the 5p11 band. The majority of reported patients have a large duplication, visible on the standard karyotype. Small subtelomeric duplications are rare. Duplications that extend to the 5p14 band result in variable intellectual deficit, epilepsy and a specific phenotype. There are no established correlations between genes in the critical region and the phenotype observed. In the majority of patients the 5p duplication is associated with the deletion of another chromosome as part of a translocation (familial or de novo). ``Pure'' duplications are rare. Some patients have been reported with interstitial duplication of 5p or an extra chromosome derived from the 5p arm (possibly in the form of a 5p isochromosome); these patients have a phenotype comparable to classical duplication.
Diagnostic methods
Diagnosis is based on standard karyotyping or molecular determination of the karyotype (FISH, MLPA, CGH array).
Genetic counseling
In cases of de novo anomalies, the risk of recurrence is low and can be explained by the possibility of a mosaic germline parent.
Management and treatment
Disease management does not differ from that of other patients with severe intellectual deficit and includes physical and psychomotor therapy. Respiratory infections should be treated aggressively.
Prognosis
The prognosis is poor; many patients die in childhood as a result of neurological complications or respiratory infections.

                            Last update: 
                            April 2009


                            - Expert reviewer(s): 
                            Pr Alain VERLOES
Trisomy 8p (ORPHA:264450)
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.
Trisomy 8q (ORPHA:1752)
A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.
Trisomy 9p (ORPHA:236)
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
Tritanopia (ORPHA:88629)
A rare form of colour blindness characterized by a selective deficiency of blue vision.
Tropical endomyocardial fibrosis (ORPHA:75565)
Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.
Tropical pancreatitis (ORPHA:103918)
A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.
Tropical spastic paraparesis (ORPHA:289326)
Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.
True congenital shoulder dislocation (ORPHA:295030)
A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.
True unicornuate uterus (ORPHA:180074)
A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.
TSH-secreting pituitary adenoma (ORPHA:91347)
A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.
Tuberculosis (ORPHA:3389)
Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.
Tubular aggregate myopathy (ORPHA:2593)
A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.
Tubular duplication of the esophagus (ORPHA:100048)
A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.
Tubulinopathy-associated dysgyria (ORPHA:467166)
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.
Tubulocystic renal cell carcinoma (ORPHA:319325)
Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.
Tufted angioma (ORPHA:1063)
A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation.
Epidemiology
The prevalence is unknown but around 200 cases have been described in the literature. However, not all cases of tufted angioma are published and a certain number of cases are probably misdiagnosed as noninvoluting congential haemangiomas (NICH).
Clinical description
Tufted angiomas appear as poorly delineated red plaques, sometimes containing scattered deep-red papules. In rare (usually congenital) cases, tumoural masses have been reported. The appearance of the lesions changes with time and they are sensitive upon palpitation, or even painful if subjected to trauma. The angiomas are sometimes covered by a layer of downy hair or encircled by a clear ring of tissue or halo.
Diagnostic methods
The diagnosis relies on the histological findings, which are characterised by a cannonball distribution of tufts of capillaries distributed throughout the dermis in a lobular arrangement. Lymphatic spaces and dermal fibrosis are frequently associated. Tufted angiomas are GLUT1-negative tumours that can be clearly distinguished from infantile haemangiomas.
Management and treatment
General corticotherapy, or therapy with alpha interferon or vincristine may be beneficial in severe cases with an extendedclinical course.
Prognosis
Although rare cases of spontaneous regression have been reported, the clinical course is often chronic. In some cases, tumours arising in the lower limbs infiltrate and progressively form a hardened (sclerous) tegument. This sclerosis may eventually reach the underlying muscle and joints, leading to significant functional problems. Tufted angiomas may be associated with Kasabach-Merritt syndrome (KMS), in which thrombopaenia can be life-threatening.

                            Last update: 
                            May 2006


                            - Expert reviewer(s): 
                            Dr Odile ENJOLRAS  - Pr Marie-Paule VAZQUEZ
Tularemia (ORPHA:3392)
A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.
Turcot syndrome with polyposis (ORPHA:99818)
Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.
Twin to twin transfusion syndrome (ORPHA:95431)
Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated