CentoPedia
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Childhood Absence Epilepsy
Childhood absence epilepsy (CAE) is a form of hereditary pediatric epilepsy, characterized by very frequent absence seizures. This formusually soccurs in children between the ages of 4 and 10 years and in most cases has a good prognosis. CAE accounts for 10-17% of all cases of epilepsy diagnosed in…
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Cerebellar Ataxia
Cerebellar ataxias are a highly heterogeneous group of genetic disorders distinguished by abnormal wide-based gait, irregular eye and hand movements, speech difficulties, and morphologically characterized by cerebellar atrophy. Ataxia is a neurological feature of abnormal gait due to the lack of…
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Early Infantile Epileptic Encephalopathy
Epileptic encephalopathies represent a group of severe epileptic diseases with an early onset, characterized by severe electroencephalographic abnormalities and resistance to standard anti-epileptic treatment. According to the International League Against Epilepsy (ILAE) epileptic encephalopathies…
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Microcephaly
Seckel syndrome is rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. The major feature of Seckel syndrome is associated autosomal recessive primary microcephaly…
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Mucopolysaccharidoses
Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…
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Joubert Syndrome
Joubert syndrome and related disorders (JSRD) are a group of rare autosomal recessive conditions characterized with developmental delay and multiple congenital anomalies. The obligatory hallmark of JRSD is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain…
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Zellweger Syndrome
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction, and psychomotor impairment,…
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Autoimmune Lymphoproliferative Syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disease caused by abnormal lymphocyte homeostasis. ALPS is characterized by non-malignant lymphoproliferation, splenomegaly, and autoimmune cytopenia. ALPS-affected patients have a lifelong increased risk of Hodgkin's and…
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Spherocytosis
Hereditary spherocytosis is a rare inherited disorder characterized by haemolytic anaemia resulting from red blood cell membrane protein anomalies. Hereditary spherocytosis is the most common inherited anemia in individuals of European ancestry, with a prevalence of 1-5 in 10,000 or higher when the…
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Dravet Syndrome
Dravet syndrome (DS) is a group of early infantile epileptic encephalopathies (EIEE) characterized by early onset, progressive encephalopathy, and severe seizures. DS is characterized by the onset of clonic or tonic-clonic seizures within the first year of life in infants with previously normal…
