TaoMedAI/RareMedData huggingface dataset:
Syndactyly type 2 (ORPHA:93403)
A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.
Syndactyly type 3 (ORPHA:93404)
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.
Syndactyly type 4 (ORPHA:93405)
A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.
Syndactyly type 5 (ORPHA:93406)
A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.
Syndactyly type 6 (ORPHA:295012)
A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.
Syndactyly type 8 (ORPHA:2498)
A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome (ORPHA:357332)
A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication (ORPHA:294026)
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.
Syndactyly-polydactyly-ear lobe syndrome (ORPHA:3259)
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.
Syndactyly-telecanthus-anogenital and renal malformations syndrome (ORPHA:140952)
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Syndrome with alpha-thalassemia as a major feature (ORPHA:232288)
This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).
Syndromic microphthalmia type 5 (ORPHA:178364)
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
Epidemiology
Less than 20 cases have been reported in the literature so far.
Clinical description
The clinical picture is highly variable, even between affected members of the same family. Ocular findings ranged from bilateral anophthalmia, to severe or mild bi- or unilateral microphthalmia and retinal dystrophy. MRI may reveal optic nerve aplasia/hypoplasia, hippocampal malformations, structural abnormalities of the pituitary gland, and agenesis of the corpus callosum. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency (CPHD), has also been reported.
Etiology
The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3).
Differential diagnosis
A similar phenotype with bilateral anophthalmia and pituitary abnormalities (with additional findings of limb defects, ear anomalies and facial dysmorphism) is found in patients carrying a deletion encompassing the OTX2 gene. Patients with the full clinical spectrum of ocular anomalies, central nervous system abnormalities and pituitary abnormalities also show significant overlap with septooptic dysplasia (see this term).

                            Last update: 
                            February 2010
Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
Syndromic orbital border hypoplasia (ORPHA:98606)
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (ORPHA:457223)
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.
Syndromic X-linked intellectual disability 7 (ORPHA:85274)
A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.
Synovial sarcoma (ORPHA:3273)
Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood (ORPHA:364033)
A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.
Systemic monochloroacetate poisoning (ORPHA:90069)
Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.
Systemic polyarteritis nodosa (ORPHA:439762)
Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.
Sézary syndrome (ORPHA:3162)
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
Epidemiology
SS has an annual incidence rate of 1/10,000,000 and represents 3% of all cutaneous lymphomas.
Clinical description
SS develops most frequently in men, in most cases during their fifth decade of life and progresses rapidly. SS correspond to stages IVA2 and IVB of T-cell cutaneous lymphoma (see this term). Patients present with a scaling erythroderma and infiltration often manifesting with leonine facies and severe pruritus. Alopecia, ectropium, mild palmoplantar keratoderma and nail onychodystrophy may be present. Lymphadenopathy and hepatosplenomegaly are observed. Patients often shiver and complain of chills and general fatigue.
Etiology
SS has been linked to a wide range of chromosomal anomalies, in particular rearrangements in the 6q23-27 region leading to alterations in the MYB proto-oncogene and the interleukin-22 receptor subunit alpha-2 gene (IL22RA2), but its etiology remains unclear.
Diagnostic methods
Criteria that define SS are currently the following: an absolute Sézary cell count of 1,000 cells/mm3 or greater (B2 stage); an increase in CD3 or CD4 positive cells resulting in a CD4/CD8 ratio of 10 or greater; aberrant expression of pan T cell markers (i.e. deficient CD7 expression on T cells); increased relative or absolute lymphocyte counts with evidence of an identical T cell clone in the blood and skin by Southern blot or PCR technique. Skin biopsy may be not conclusive.
Differential diagnosis
Differential diagnosis includes adverse drug reactions, classical mycosis fungoides and other forms of primary cutaneous T cell lymphoma (see these terms) as well as other causes of erythroderma such as psoriasis, atopic dermatitis and pityriasis rubra pilaris (see this term).
Management and treatment
Assessment includes chest X-ray, computed tomography scan, magnetic resonance imaging and PET scan and an initial lymph node biopsy. Bimonthly extracorporeal photopheresis treatment may be combined with low doses of methotrexate, bexarotene or interferon-alpha. In advanced or non-responsive cases, chemotherapy with liposomal doxorubicine, gemcitabine or alemtuzumab may be considered. In cases of relapse, treatment may include total skin electron beam therapy and allogeneic stem cell transplantion.
Prognosis
Prognosis is poor, with median survival of patients being approximately 5 years, and is dependent upon initial presentation and evolution.

                            Last update: 
                            August 2013


                            - Expert reviewer(s): 
                            Pr Martine BAGOT
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.
T-B+ severe combined immunodeficiency due to CD45 deficiency (ORPHA:169157)
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.
T-B+ severe combined immunodeficiency due to gamma chain deficiency (ORPHA:276)
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Epidemiology
It accounts for approximately 50% of SCID cases and is the most common form of SCID in Europe. The annual incidence varies among the populations but it is estimated at approximately 1/200,000 births. The disease occurs in males.
Clinical description
SCID-X1 manifests during the first months of life with severe and often life threatening viral, bacterial or fungal infections (e.g. Pneumocystis jiroveci pneumonitis, disseminated BCG infection if previously vaccinated), and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Materno-fetal transfusion-associated graft versus host disease is also associated with the disease. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count.
Etiology
SCID-X1 results from a defect in the IL2RG gene encoding the common gamma chain.
Genetic counseling
Transmission is X-linked.

                            Last update: 
                            March 2013


                            - Expert reviewer(s): 
                            Pr Andrew GENNERY
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (ORPHA:169154)
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.
T-B+ severe combined immunodeficiency due to JAK3 deficiency (ORPHA:35078)
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Epidemiology
Annual incidence is between 1/100,000 and 1/1,000,000 live births depending on the population.
Clinical description
The disease shares the same clinical picture as SCID due to gamma chain deficiency (see this term). Patients present in the first few months of life with the classical clinical features of SCID, i.e. chronic diarrhea, failure to thrive, recurrent respiratory infections and/or generalized infections due to opportunistic pathogens. Patients may present with skin rash, abnormalities of liver function, and pancytopenia. Materno-fetal transfusion-associated graft versus host disease is also associated with the disease. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes.
Etiology
SCID due to JAK3 deficiency results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signaling.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            March 2013


                            - Expert reviewer(s): 
                            Pr Andrew GENNERY
T-B+ severe combined immunodeficiency (ORPHA:317416)
T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.
T-B- severe combined immunodeficiency (ORPHA:317419)
T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.
T-cell immunodeficiency with epidermodysplasia verruciformis (ORPHA:324294)
A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.
T-cell immunodeficiency with thymic aplasia (ORPHA:83471)
A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.
T-cell large granular lymphocyte leukemia (ORPHA:86872)
T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.
T-cell prolymphocytic leukemia (ORPHA:86871)
A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.
T-cell/histiocyte rich large B cell lymphoma (ORPHA:300857)
T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.
TAFRO syndrome (ORPHA:457077)
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.
Takenouchi-Kosaki syndrome (ORPHA:487796)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.
Tall stature-long halluces-multiple extra-epiphyses syndrome (ORPHA:329191)
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Talo-patello-scaphoid osteolysis (ORPHA:50809)
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.
TARP syndrome (ORPHA:2886)
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
Tarsal kink syndrome (ORPHA:99170)
Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.
Tarsal-carpal coalition syndrome (ORPHA:1412)
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
Epidemiology
Less than 10 affected families have been described so far.
Clinical description
At birth, patients present with stiffness of the proximal interphalangeal joint of the fifth digit, with or without bony synostosis. Proximo-distal progression leads to involvement of the fourth, third and then the second digits. Other anomalies include brachydactyly, humeroradial synostoses and, in some cases, short stature.
Etiology
Causative mutations in the NOG gene have recently been identified, showing that this syndrome is an allelic variant of symphalangism.
Differential diagnosis
Tarsal-carpal coalition syndrome can be distinguished from multiple synostoses syndrome and proximal symphalangism (see these terms) by the absence of hearing loss.
Genetic counseling
Transmission is autosomal dominant.

                            Last update: 
                            September 2007