TaoMedAI/RareMedData huggingface dataset:
Seckel syndrome (ORPHA:808)
A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
Epidemiology
Seckel syndrome is the most common of the microcephalic osteodysplastic dwarfisms.
Clinical description
Seckel syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a bird-headed like appearance and mental retardation. Hematological abnormalities with chromosome breakage have only been found in 15 to 25% of patients.
Etiology
Besides to a wide phenotypic heterogeneity between affected patients, genetic heterogeneity has also been proven, with three loci identified to date by homozygosity mapping: SCKL1 (3q22.1-q24, ataxia-telangiectasia and Rad3-related protein (ATR) gene), SCKL2 (18p11.31-q11.2, unknown gene) and SCKL3 (14q23, unknown gene). SCKL3 seems to be the predominant locus for Seckel syndrome. Approaching the function of the ATR gene, the genes with a role in DNA repair are good candidates for SCKL2 and 3.
Differential diagnosis
The differential diagnosis with microcephalic osteodysplastic dwarfism type II can only be made with a complete radiographic survey in the first years of life.
Genetic counseling
Seckel syndrome is an autosomal recessive disorder.
Management and treatment
Intellectual disability is usually severe and families should be helped for social problems. In case of associated hematological abnormalities (anemia, pancytopenia, acute myeloid leukaemia), medical treatment should be provided.

                            Last update: 
                            April 2005


                            - Expert reviewer(s): 
                            Pr Valérie CORMIER-DAIRE  - Pr Laurence OLIVIER-FAIVRE
Second branchial cleft anomaly (ORPHA:141022)
A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.
Secondary erythromelalgia (ORPHA:529864)
A rare neurologic disease characterized by intermittent pain, erythema, swelling, and heat of the extremities which is aggravated by warming and improved by cooling. Attacks can last between minutes and days and tend to be precipitated by heat, exercise, or physical dependence. The disease may be linked to a variety of underlying conditions including hematological, metabolic, connective tissue or neurological disorders, neoplasia, infections, and certain drug side effects, among others.
Secondary hypereosinophilic syndrome (ORPHA:314962)
A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.
Secondary intestinal lymphangiectasia (ORPHA:90363)
Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohns disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.
Secondary non-traumatic avascular necrosis (ORPHA:399180)
A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.
Secondary polyarteritis nodosa (ORPHA:439746)
Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).
Secondary pulmonary alveolar proteinosis (ORPHA:420259)
A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.
Secondary pulmonary hemosiderosis (ORPHA:99930)
Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography
Secondary sclerosing cholangitis (ORPHA:447774)
A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.
Secondary short bowel syndrome (ORPHA:95427)
Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
Secondary syringomyelia (ORPHA:99857)
Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated.
Seizures-intellectual disability due to hydroxylysinuria syndrome (ORPHA:79156)
A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.
Seizures-scoliosis-macrocephaly syndrome (ORPHA:466926)
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.
Selective IgM deficiency (ORPHA:331235)
A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.
Self-healing papular mucinosis (ORPHA:90397)
Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.
Self-improving collodion baby (ORPHA:281122)
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
Epidemiology
The exact prevalence is unknown. Approximately 25 cases have been reported in the literature.
Clinical description
Affected babies are born in a collodion membrane. They also display ectropion and eclabium and a limited joint mobility. After the shedding of the membrane, patients present with mild scaling.
Etiology
SCHB is due to mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive.

                            Last update: 
                            January 2012


                            - Expert reviewer(s): 
                            Pr Juliette MAZEREEUW-HAUTIER
Self-improving dystrophic epidermolysis bullosa (ORPHA:79411)
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
Epidemiology
Prevalence is unknown. To date, 52 cases have been reported.
Clinical description
The disease usually manifests at birth, or soon after. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Healing of blisters is associated with mild, mostly atrophic, scarring and milia formation. Disease activity usually ceases within the first 6 to 24 months of life, although there are a few cases with continued blistering past age 3 years. Nail dystrophy and some degree of skin fragility can persist in adulthood. Ultrastructurally, the presence in basal keratinocytes of peculiar cytoplasmic inclusions, known as stellate bodies, filled with unsecreted procollagen VII, is typical of the disease.
Etiology
The disorder is caused by mutations within the type VII collagen gene (COL7A1; 3p21.31). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis.
Diagnostic methods
Diagnosis is based on identification of granular intraepidermal type VII collagen by immunofluorescence mapping and electron-dense stellate bodies on ultrastructural examination. Genetic testing can confirm diagnosis.
Differential diagnosis
The differential diagnosis includes other types of epidermolysis bullosa.
Antenatal diagnosis
Because of the mild course of the disease, antenatal diagnosis is usually not required.
Genetic counseling
Genetic counseling will depend on the mode of inheritance which can be autosomal dominant or recessive.
Management and treatment
Treatment is symptomatic with wound care to prevent secondary infection and reduce scarring.
Prognosis
Overall the prognosis is good.

                            Last update: 
                            May 2021


                            - Expert reviewer(s): 
                            Pr Carmen SALAVASTRU | ERN-Skin*


                                * European Reference Network
Self-limited childhood occipital epilepsy (ORPHA:25968)
Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.
Self-limited epilepsy with autonomic seizures (ORPHA:98815)
Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.
Self-limited epilepsy with centrotemporal spikes (ORPHA:1945)
Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.
Epidemiology
RE is the most common childhood epilepsy and accounts for 8-25% of all childhood epilepsies. Its incidence has been estimated to be approximately 1/5,000 in children within 15 years.
Clinical description
Onset is between 3 and 12 years, in otherwise normal children (peak of onset is 5-8 years). Seizures typically occur during sleep or drowsy states; they are brief with unilateral sensorimotor (such as numbness, tingling, drooling) that involves pharynx, tongue, face, lips and sometimes hand. Speech arrest often occurs, while comprehension is preserved. Seizures may alternate from one side to the other and may become generalized. Longer attacks can be followed by post-ictal hemiplegia. Some children may have selective neuropsychological impairment affecting language, attention, visuomotor skills and behavior. They usually do not outlast the period of active seizures. Seizure remission occurs within 2-4 years from the onset. The majority of patients have <10 seizures and 10-20% have a single seizure.
Etiology
Etiology of RE is still unknown. There is probably a genetic predisposition: an increased rate of RE, febrile seizures, and epilepsy-aphasia spectrum disorders were found among relatives. Pathogenesis seems to be related with the critical and vulnerable phase of brain maturation.
Diagnostic methods
Diagnosis of RE relies on the clinical features and on EEG findings that show slow, diphasic, high voltage, centrotemporal spikes, activated by sleep. Brain magnetic resonance imaging (MRI) is normal.
Differential diagnosis
Differential diagnosis includes other idiopathic focal childhood epilepsies (benign childhood occipital epilepsy, Panayiotopoulos type and Gastaut type. Other etiologies causing similar symptoms are excluded with brain MRI.
Genetic counseling
Autosomal dominant transmission has been reported in some cases.
Management and treatment
The majority of patients, who have a single or few seizures, do not require treatment. Differently, patients with frequent seizures (10-20%) may need treatment for a short time. In such cases, carbamazepine or valproate are preferred even if, in rare cases, carbamazepine may have a paradoxical effect.
Prognosis
Prognosis of RE is favorable since nearly 90% of patients remit before puberty. In rare cases (<1%), RE may evolve to atypical RE with linguistic, behavioral and neuropsychological deficits. An aggressive treatment with steroids, in these cases might change the evolution of the disease and a remission of neuropsychological deficits might be seen.

                            Last update: 
                            May 2015


                            - Expert reviewer(s): 
                            Pr Nicola SPECCHIO  - Dr Marina TRIVISANO
Self-limited neonatal-infantile epilepsy (ORPHA:140927)
Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.
Semantic dementia (ORPHA:100069)
Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
Semicircular canal dehiscence syndrome (ORPHA:420402)
A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.
Semilobar holoprosencephaly (ORPHA:220386)
A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.
Senior-Boichis syndrome (ORPHA:84081)
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.
Sensorineural deafness with dilated cardiomyopathy (ORPHA:217622)
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Sensorineural hearing loss-early graying-essential tremor syndrome (ORPHA:66633)
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
Sepsis in premature infants (ORPHA:90051)
A rare systemic condition affecting neonates born at less than 37 weeks gestational age and characterized by life-threatening organ dysfunction caused by a dysregulated host response to an infection, which may have been acquired shortly before or during birth (resulting in early-onset neonatal sepsis during the first 72 hours of life), or after birth (leading to late-onset neonatal sepsis between 72 hours and three months). Prematurity constitutes one of the primary risk factors for neonatal sepsis. The clinical picture may develop gradually with signs and symptoms like irritability, lethargy, or poor feeding, or progress rapidly to respiratory distress, fever, hypothermia, hypotension, shock, and multiple organ failure.
Septate vagina (ORPHA:180154)
A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum.
Septopreoptic holoprosencephaly (ORPHA:280195)
A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.