Rare Pediatrics News
Renal agenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 411709DefinitionRenal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).EpidemiologyThe annual…
Primary open angle glaucoma juvenile onset 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98977 Definition A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. Epidemiology The disorder…
DYT-TUBB4A
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98805 Definition DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). Epidemiology So far, the disease has been reported in one large Australian family….
Glycogen storage disease type 5
Glycogen storage disease type 5 (GSDV) is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance).[1] Usually, when people with this…
Spinocerebellar ataxia 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98762 Definition Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated…
Autosomal recessive spastic paraplegia type 49
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 320385 Definition Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux…
Lymphatic filariasis
Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body’s fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema, which may…
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the…
Baroreflex failure
Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain.[1][2] Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest.[1][2] Symptoms of baroreflex failure may include…
Simosa cranio facial syndrome
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Lymphocytic infiltrate of Jessner
Lymphocytic infiltrate of Jessner is a skin condition characterized by small, red, bumps on the face, neck, and upper back.[1][2] The bumps usually last for several months or longer and can enlarge to create a red plaque.[2] Typically, there are no other symptoms, although rarely, individuals may experience burning or itching. The symptoms may fluctuate between periods of worsening and periods…
Subcutaneous panniculitis-like T-cell lymphoma
Subcutaneous panniculitis-like Tcell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin.[1][2] Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. This is known as…
Geographic tongue
Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition is called “areata…
Swyer-James syndrome
Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries.[1][2] Affected individuals may…
Early-onset parkinsonism-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2379 Definition Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus…
Primary Familial Brain Calcification
Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an…
Trichodental syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3351 Definition Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. Visit…
Kowarski syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 629 Definition Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of…
Bohring-Opitz syndrome
Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm’s tumor, microcephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene.[1][2] The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases…
Viral hemorrhagic fever
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 341 Definition Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg’s disease that first occurred…
Lyme disease
Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell’s palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center…
Immune defect due to absence of thymus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83471 Definition A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound Tcell deficiency, while serum immunoglobulin levels are normal…
Cleidorhizomelic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1453 Definition Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray…
Inflammatory myofibroblastic tumor
An inflammatory myofibroblastic tumor (IMT) is an uncommon, usually benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit…
Brittle cornea syndrome
Brittle cornea syndrome (BCS) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia), a…
Whipple disease
Whipple disease is an infectious bacterial disease that affects many different organ systems and interferes with the body’s ability to process (metabolize) fats.[1] The disease usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes.[2] In the gastrointestinal system, it interferes with the body’s ability to…
Bronchiolitis obliterans
Bronchiolitis obliterans is an inflammatory condition that affects the lung’s tiniest airways, the bronchioles. In affected people, the bronchioles may become damaged and inflamed leading to extensive scarring that blocks the airways. Signs and symptoms of the condition include a dry cough; shortness of breath; and/or fatigue and wheezing in the absence of a cold…
Johanson-Blizzard syndrome
Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS may vary among affected individuals. Many symptoms are present at birth or early childhood. Characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency);…
Rheumatoid factor-negative juvenile idiopathic arthritis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85408 Definition Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less…
SCOT deficiency
SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). This enzyme is necessary for the body to use ketones. Ketones are substances produced in the liver when fats are broken down. Ketones are an important source of energy, especially when there is a shortage of carbohydrates (sugar). SCOT deficiency…
Lactate dehydrogenase B deficiency
Lactate dehydrogenase B deficiency (LDHBD) is a condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected…
Uterine Carcinosarcoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 213610 Definition Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal…
Lenz microphthalmia syndrome
Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens (cataracts), uncontrolled eye movements (nystagmus),a gap or split in structures that make up…
Cri du chat syndrome
Cri du chat syndrome is present from birth and affects growth and development. Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial appearance. They may have trouble breathing and feeding difficulties. People with this condition typically have intellectual disability, developmental and speech delay, and behavioral issues. Cri du…
Lewis-Sumner syndrome
Lewis-Sumner syndrome (also known as multifocal acquired demyelinating sensory and motor neuropathy) is a neurological condition affecting primarily the arms and hands (upper limbs). The symptoms are a result of inflammation of the nerves leading to the upper body and the destruction of the fatty covering that protects the nerves (myelin sheath). Lewis Sumner syndrome…
Corneal dystrophy of Bowman layer type 1
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Lujan syndrome
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and…
Roussy Levy syndrome
Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease. Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory…
Microphthalmia syndromic 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3434 Definition The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported….
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People…
Ring chromosome 13
Ring chromosome 13 is a rare chromosome abnormality in which the ends of chromosome 13 join together to form a ring shape. When a ring forms, there may be missing genes where the chromosome’s ends fuse together. Therefore, the severity and symptoms associated with ring chromosome 13 vary from person to person, depending on the…
Mucolipidosis III alpha/beta
Mucolipidosis III (ML III) is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). Symptoms typically present around age 3 and include developmental delay, joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems. Many individuals with ML III develop low bone density (osteoporosis),…
Ring chromosome 2
Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape. The severity and symptoms associated with ring chromosome 2 vary from person to person. Slow growth, short stature and a small head size are common features, but people with ring chromosome 2 may…
Mosaic trisomy 14
Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth…
Chromosome 3q deletion
Chromosome 3q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…
Chromosome 7q duplication
Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Myxopapillary ependymoma
Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord).[1] They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors.[2] The age of diagnosis ranges…
Necrobiosis lipoidica
Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to…
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic…
Crane-Heise syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1512 Definition Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Epidemiology Nine cases have been reported in the literature so far. Clinical description Dysmorphic…
Not otherwise specified 3-MGA-uria type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67048 Definition 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of…
Oculorenocerebellar syndrome
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Cobb syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53721 Definition Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve…
Onchocerciasis
Onchocerciasis is a rare tropical parasitic disease transmitted by a black fly. Infection by the parasite can cause eye and skin problems. In humans, the parasitic worms live under the skin (subcutaneous nodules) and produce larvae (microfilariae). The larvae are found throughout the body, but especially in the skin and eyes.[1] Repeated bites by infected…
Complement component 2 deficiency
Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions…
Congenital rubella
Congenital rubella refers to the group of birth defects that occur in an infant whose mother is infected with the virus that causes German measles (rubella) during pregnancy. Congenital rubella occurs when the rubella virus in the mother affects the developing baby in the first 3 months of pregnancy. After the fourth month, if the…
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person’s ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume…
Menkes disease
Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow…
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300570 Definition A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial…
Temtamy syndrome
Temtamy syndrome is a developmental neurological disorder, meaning that it affects the way the brain is formed and how well it functions. In most cases, the bundle of nerve fibers (the corpus callosum) that connects the two sides of the brain is partially or completely missing. Other symptoms may include seizures, changes in the size or function of…
Gracile bone dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2763 Definition Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. Epidemiology…
Cryoglobulinemic vasculitis
Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal immune system proteins called cryoglobulins. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. When symptoms occur, they…
Corneal dystrophy and perceptive deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1490 Definition Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss. Epidemiology To…
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White matter hypoplasiacorpus callosum agenesisintellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, widely spaced eyes (hypertelorism), and a very small chin (micrognathia); failure to thrive; severe intellectual disability; and lack of muscle tone (hypotonia). Exams…
Hashimoto encephalopathy
Hashimoto encephalopathy (HE) affects the brain and how the brain works. Symptoms of HE may include behavior changes, confusion, cognitive difficulty, and seizures. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. HE occurs mainly in adults and affects females more than males. The exact cause of HE is not known but may…
Rare Pediatrics News