TaoMedAI/RareMedData huggingface dataset:
Silent sinus syndrome (ORPHA:71276)
A rare otorhinolaryngologic disease characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls and remodeling of the orbital floor.
Epidemiology
Its prevalence is unknown but around 550 cases have been reported in the literature so far. Patients typically present at 30-60 years old, with no sex predilection.
Clinical description
The progressive enophthalmos may occasionally be associated with hypoglobus, diplopia, headache, and facial pressure/pain. Patients sometimes report a history of remote episodes of sinusitis. The syndrome may be idiopathic or occur following a bony orbital decompression resulting from Graves' ophthalmopathy or orbital floor fracture.
Etiology
The underlying mechanism involves obstruction of the ostiomeatal complex followed by development of hypoventilation and negative maxillary sinus pressure. This negative pressure subsequently collapses the sinus and causes inward bowing of the ipsilateral orbital floor.
Diagnostic methods
Diagnosis is made by facial computerized tomography (CT) scanning with coronal reconstructions, showing a collapse of the maxillary sinus wall(s) and opacification of the sinus cavity. The ostium of the maxillary sinus is occluded due to lateral retraction of the uncinate process and apposition against the inferomedial orbital wall. The middle meatus is enlarged.
Differential diagnosis
Differential diagnosis should include orbital floor 'blow-out' fractures, soft tissue atrophy, primary or secondary malignancy, orbital venous malformations, bone growth arrest following radiation therapy, congenital etiologies (minor forms of hemifacial microsomia, plagiocephaly, microphthalmos etc.) and pseudoenophthalmos (unilateral blepharoptosis, Horner syndrome, contralateral exophthalmos, contralateral high myopia and contralateral eyelid retraction).
Management and treatment
Surgery is the only treatment. Functional endoscopic sinus surgery (FESS) is performed to open the ostiomeatal complex, with complete uncinectomy, and prevent development of negative maxillary pressure. Residual ophthalmic symptoms (e.g., enophthalmos) may be addressed by reconstructing the orbital floor in conjunction or in discontinuity with FESS.
Prognosis
Improvement in clinical symptoms, including enophthalmos and hypoglobus, is seen in a majority of patients.

                            Last update: 
                            July 2023


                            - Expert reviewer(s): 
                             Abiri ARASH  - Dr Edward KUAN
Sillence syndrome (ORPHA:3168)
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978.
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).
Silver-Russell syndrome (ORPHA:813)
Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.
Epidemiology
The incidence is evaluated at 1-30/100 000 cases and about 400 cases have been reported in the literature.
Clinical description
Weight is often more affected than size, with little subcutaneous fat tissue. Bone maturation is delayed, in accordance with small stature. The fontanelle may be late to close. The skull has a normal circumference, which may contrast with the rest of the body and confers a pseudohydrocephalic appearance. The wide prominent forehead contrasts with the small, triangular face with a small pointed chin, a wide mouth with thin lips and down-turned corners, large eyes and bluish sclera. Lateral and usually partial asymmetry of the limbs is observed in 60% to 80% of cases, but is not progressive. Shortness and/or clinodactyly of the fifth fingers is a common finding. Patients may be slow to learn motor skills, and in rare cases, may be mildly intellectually deficient.
Etiology
Etiology is heterogeneous. Most cases are sporadic. Maternal uniparental disomy of chromosome 7 is observed in 10% of patients. Approximately 30% of the cases show hypomethylation of the H19 gene, located in the 11p15 imprinted region. Hypomethylation results in most cases from an epigenetic mechanism or a genomic microrearrangement, such as a maternal microduplication of the region.
Diagnostic methods
Diagnosis is mainly clinical, as there is no specific biological test, but it can be confirmed by the detection of the underlying molecular anomaly.
Differential diagnosis
Differential diagnosis includes intrauterine growth retardation due to impaired placental function, structural or mosaic chromosomal abnormalities, neonatal progeria (Wiedemann-Rautenstrauch syndrome), 3M syndrome and Mulibrey dwarfism (see these terms). Genetic counselling depends on the molecular mechanism involved.
Antenatal diagnosis
Prenatal diagnosis is not usually possible (as most cases reported so far are sporadic, the potential risk of having an affected child is not anticipated during pregnancy).
Genetic counseling
The recurrence risk is extremely low in cases of uniparental disomy of chromosome 7 or epigenetic anomalies of the 11p15 region.
Management and treatment
Treatment is supportive. Growth hormone therapy can speed up the growth and increases the final height, but does not allow the target height to be reached.
Prognosis
Beyond short stature and slender build, long-term prognosis is good. Hemihypotrophy is not associated with an increased tumoral risk.

                            Last update: 
                            September 2007


                            - Expert reviewer(s): 
                            Pr Annick TOUTAIN
SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed.
Simple cryoglobulinemia (ORPHA:91139)
Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.
Epidemiology
The prevalence is unknown.
Clinical description
This serological disorder is almost invariably associated with well-known hematological disorders, usually B-cell dyscrasias (multiple myeloma, Waldenström macroglobulinemia, or chronic lymphocytic leukemia; see these terms). Type I cryoglobulinemia is frequently asymptomatic per se but patients may develop acrocyanosis, retinal hemorrhage, Raynaud's phenomenon, and arterial thrombosis. These symptoms may be the expression of hyperviscosity syndrome due to high levels of monoclonal cryoglobulins. The cryoprecipitate in type I cryoglobulinemia is usually composed of IgG or IgM, but infrequent cases with IgA and very rarely monoclonal light-chain protein cryoprecipitation have been reported. Type I cryoglobulins lack rheumatoid factor activity (RF) and do not easily activate complement.
Etiology
The pathogenetic processes in simple cryoglobulinemia generally appear to be related to those of the underlying lymphoproliferative diseases. The mechanisms of cryoprecipitation are poorly understood but may be partially related to the structure of the component immunoglobulin heavy and light chains.
Diagnostic methods
Diagnosis is based on detection of cryoglobulins through blood sampling, clotting, and serum separation (carried out at 37°C), and cryoglobulin isolation and cryocrit determination (carried out at 4°C). Ig composition is commonly evaluated by simple diffusion on agarose gels or by immunoelectrophoresis (performed at 37°C to avoid precipitation and loss of cryoglobulins during the procedures).
Differential diagnosis
The principle differential diagnosis is mixed cryoglobulinemia (MC type II-III; see these terms). Type I cryoglobulinemia and MC type II-III are two distinct clinico-serological entities. In contrast to type I cryoglobulinemia, the cryoprecipitate in MC type II-III is composed ofimmune complexes containing polyclonal IgGs and mono- (type II) or polyclonal (type III) IgMs. Patients with simple cryoglobulinemia lack the typical vasculitic manifestations and serological findings (RF positivity and low complement C4) that characterize MC patients. Clinical course, treatment, and prognosis of type I cryoglobulinemia largely depend on the underlying disorder. Patients with a benign monoclonal gammopathy of undetermined significance are generally asymptomatic or present with a mild disorder.
Management and treatment
Plasma exchange treatment, with/without steroids and/or immunosuppressors, is beneficial for simple cryoglobulinemia patients presenting with clinically overt hyperviscosity syndrome. In patients with malignant B-cell neoplasias, the chemotherapy may lead to resolution of this serological manifestation.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Pr Clodoveo FERRI
Sinding-Larsen-Johansson disease (ORPHA:97337)
A rare osteochrondrosis characterized by chronic traction injury of the immature osteotendinous junction where the patellar tendon inserts into the inferior pole of the patella. It is typically seen in active adolescents. Patients present with point tenderness at the inferior pole of the patella associated with focal swelling and restriction of knee joint range of movement. Radiographic features include thickening of the proximal patellar tendon (potentially followed by dystrophic calcification and/or ossification) and fragmentation of the inferior pole of the patella.
Single-organ polyarteritis nodosa (ORPHA:439755)
Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.
Singleton-Merten dysplasia (ORPHA:85191)
Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Sinoatrial node dysfunction and deafness (ORPHA:324321)
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
Sirenomelia (ORPHA:3169)
A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.
Sitosterolemia (ORPHA:2882)
Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
Situs ambiguus (ORPHA:157769)
A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.
Situs inversus totalis (ORPHA:101063)
A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.
SIX2-related frontonasal dysplasia (ORPHA:488437)
A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.
Skeletal dysplasia-epilepsy-short stature syndrome (ORPHA:1858)
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome (ORPHA:508533)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.
Skeletal Ewing sarcoma (ORPHA:319)
Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.
Epidemiology
Annual incidence is estimated at 1/312,500 in children under the age of 15.
Clinical description
It occurs between the ages of 5 and 30 with a peak of incidence between ages 12 and 18. The most frequent symptom is pain. Other symptoms depend on the organs closest to the tumor: motor, sphincteric disorders caused by nervous compression or mechanical disorders are associated with pelvic tumors; respiratory disorders or pleural effusion are associated with costal tumors; medullar or radicular compression are associated with vertebral tumors. The tumor initially develops most frequently in bone, particularly in the pelvis (30%), thorax (rib, clavicle, scapula) (20%), femur (16%), tibia (9%), vertebrae (8%) and humerus (5%). The disease has a high potential for metastases (lung, bone, bone marrow). Neuroepithelioma is a highly differentiated neural variant (see this term). Askin's tumor is a thoracic variant which can be slightly or well differentiated.
Etiology
Although no specific cause has been identified, a specific translocation involving the EWSR1 gene (22q12.2) is present in 90% of tumors of this type, most often a translocation t(11;22)(q24;q29). Many variants of this translocation have been described (involving the ERG, ETV1, FLI1 and NR4A3 genes).
Diagnostic methods
The diagnosis is suggested after the identification, by PCR (polymerase chain reaction), of these translocations.
Differential diagnosis
Differential diagnoses include other small round cell tumors: neuroblastoma, embryonal or alveolar rhabdomyosarcoma, non-Hodgkin's lymphoma and mesenchymatous chondrosarcomas (see these terms). The existence of a translocation involving the EWSR1 gene allows these diseases to be ruled out.
Management and treatment
Treatment should be managed by a multidisciplinary team with expertise in treating childhood cancers. Treatment starts systematically with chemotherapy to reduce the size of the primary tumor and to eradicate or prevent metastases. Surgery is recommended whenever the location of the tumor allows. Local radiotherapy is sometimes necessary, either in addition to surgery or alone for inoperable tumors. For more severe forms of the disease (limited response to initial chemotherapy or metastases already present at diagnosis), high dose chemotherapy with stem cell transplantation can be suggested as a last resort treatment. Targeted therapies, for example with anti-IGF-R (insulin-like growth factor receptor), are currently being studied.
Prognosis
Survival without recurrence of localized forms is around 70%. For forms with lung metastases the survival rate is around 50%. Forms with metastases of the bones or bone marrow have a more severe prognosis.

                            Last update: 
                            February 2009


                            - Expert reviewer(s): 
                            Dr Odile OBERLIN
Skin fragility-woolly hair-palmoplantar keratoderma syndrome (ORPHA:293165)
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.
SLC35A1-CDG (ORPHA:238459)
SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
SLC35A2-CDG (ORPHA:356961)
A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
SLC39A8-CDG (ORPHA:468699)
A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay, severe intellectual disability, hypotonia, and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.
Small cell carcinoma of the ovary (ORPHA:370396)
Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.
Small cell lung cancer (ORPHA:70573)
Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.
SMARCA4-deficient sarcoma of thorax (ORPHA:466962)
A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.
Smith-McCort dysplasia (ORPHA:178355)
Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.
Snakebite envenomation (ORPHA:449285)
A rare disorder due to poisoning caused by toxins in the bite of a venomous snake. Envenoming can also be caused by spraying of venom into the eyes. Depending on venom composition and other factors, consequences range from local tissue damage to potentially life-threatening systemic effects. Severe manifestations include paralysis, bleeding disorders, kidney failure, or permanent disability and limb amputation due to severe local tissue destruction. Children may suffer more severe effects because of their lower body mass. Immediate medical attention, in particular administration of antivenom, is critical.
Snowflake vitreoretinal degeneration (ORPHA:91496)
Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.