Abdominal migraine in children facts Abdominal migraine is believed to be a variant of migraine that is common in children but rare in adults. Abdominal migraine is characterized by pain in the center of the abdomen that may be severe. Symptoms can last for one hour or up to a several days. Nausea and vomiting may be associated with the pain. Sleep typically brings relief from abdominal mi  Read More

Batten turner congenital myopathy is a rare genetic disorder that is passed down through families. The exact cause of the condition is unknown, but it is thought to be associated with problems in the genes that control muscle development and function. There are a number of risk factors that have been identified as being associated with batten turner congenital myopathy. These include: 1. Having a family history of  Read More

Batten Turner Syndrome is a rare genetic disorder that is characterized by progressive vision loss and neurological problems. The exact cause of the condition is unknown, but it is believed to be caused by a mutation in a gene called CLN3. Batten Turner Syndrome typically begins in childhood, and affects both males and females equally. There is currently no known cure for the condition, but treatments are available to help man  Read More

Bowen-Conradi syndrome, a highly uncommon hereditary condition, is marked by abnormalities of the head and face, developmental delays before birth, and infantile failure to thrive. Small head, prominent nose, small chin, minor joint limitation, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in afflicted males are some other physical anomalies. Kidney, brain, and/or other problems may  Read More

Cure or Medication for campomelic dysplasia Campomelic dysplasia has no known treatment; alternatively, it is treated or prevented. The structural problems may potentially be corrected by surgical techniques. The following are the treatments for Campomelic dysplasia. 1. PEEP: Positive end-expiratory pressure (PEEP), a mechanical breathing aid, may help affected people with respiratory issues.  Read More

Cantrell pentalogy, also known as thoracoabdominal syndrome, is an incredibly uncommon birth condition. Cantrell pentalogy, as the name suggests, is a collection of five birth abnormalities affecting the sternum (breastbone), diaphragm (muscle that separates the chest and abdominal compartments and aids in breathing), and the heart, and the abdomen wall. Cure or medication available for Cantrell pentalogy  Read More

Roussy-Levy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with t  Read More

Cyclic vomiting syndrome (CVS) is a rare disorder characterized by recurrent, similar episodes of severe nausea and vomiting. An episode may last for a few hours to several days and then is followed by a period of time during which affected individuals are free of severe nausea and vomiting. This alternating pattern of disease and disease-free periods distinguishes cyclic vomiting syndrome from other similar disorders. Also, in cyclic vomiting  Read More

The signs and symptoms of childhood muscular dystrophy arise at an early age. Girls can have the gene and have modest symptoms, but boys are considerably more likely to have it. 1. Frequent falls 2. Having trouble maintaining a position such as getting up from a lying or sitting. 3. A waddling walk 4. Difficulty running and jumping 5. Enlarged calf muscles Once more, they might  Read More

Multiple bodily systems are impacted by the illness known as Coffin-Siris syndrome. Developmental disability, anomalies of the fifth (pinky) fingers or toes, and distinctive facial features are trademarks of this disorder, despite the fact that there are numerous diverse signs and symptoms. 1. The majority of those affected have mild to severe intellectual disabilities or delayed speech and motor skill development  Read More

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differe  Read More

The major goal of cystinuria treatment is to lower the cystine concentration in the urine. Consuming big amounts of liquids both during the day and at night keeps the urine volume high and lowers the cystine content in the urine. Turning the urine more alkaline allows cystine to break down more easily and may help avoid the formation of stones. 1. Medication Potassium citrate and acetazolamide are two medications t  Read More

Renal medulla, congenital also known as Medullary sponge kidney, is a kidney disease. There is no specific treatment for Renal medulla, congenital. It is centered around managing urinary tract infections and kidney stones. 1. The standard treatment for urinary tract infections is antibiotics. 2. Treatment for kidney stones depends mainly on stone size. If the stone is small in size, it shall pas  Read More

Hearing loss can affect a child’s ability to develop speech, language, and social skills. The earlier children with hearing loss start getting services, the more likely they are to reach their full potential. Hearing loss can happen when any part of the ear is not working in the usual way. Genetic factors are thought to cause more than 50% of all incidents of congenital hearing loss in children. Geneti  Read More

DOOR syndrome is a rare genetic disorder that may be recognized shortly after birth. "DOOR," an acronym for characteristic abnormalities associated with the syndrome, stands for (D)eafness due to a defect of the inner ear or auditory nerve (sensorineural hearing loss); (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound mental (R)etardation. In addition, in some cases, a  Read More

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

Schilder's disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment. The disorder is a variant of multiple sclerosis. Encephalitis  Read More

temporal lobe resection is a treatment not a disorder  Read More

Febrile seizures are convulsions brought on by a fever in infants or small children. How common are febrile seizures? Approximately one in every 25 children will have at least one febrile seizure, and more than one-third of these children will have additional febrile seizures before they outgrow the tendency to have them. Febrile seizures usually occur in children between the ages of 6 months and 5 years and are particularly co  Read More

Fifth digit syndrome also known as Coffin-Siris syndrome is a genetic disorder that results in varying degrees of learning disability, developmental slowdowns, stunted 'pinky' toenails or fingernails, and distinctive facial features. Here are the risk factors for fifth digit syndrome: 1. The most common known cause of the condition is ARID1B gene variants. 2. The mode of inheritance is autosomal dominant, wh  Read More

Glossoptosis micrognathia and cleft palate are known as the Pierre Robin sequence. 1. No medications are available that improve the situation. 2. The conditions are managed through surgical interventions. Surgery is performed only to solve the functional problems that a patient may have. Surgical treatments may be indicated for PRS patients with more severe clinical conditions, especially for people with air  Read More

Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of several organic acids in the blood and urine. Two enzymes that may be deficient in glutaricaciduria II are electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF:QO). A complete en  Read More

Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas o  Read More

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardatio  Read More

Helicobacter pylori (H. pylori) facts Helicobacter pylori (H. pylori) is a bacterium that causes chronic inflammation in the stomach and is a common cause of ulcers worldwide H. pylori causes chronic inflammation (gastritis) by invading the lining of the stomach and producing a cytotoxin termed Vacuolating cytotoxin A (Vac-A); these functions can lead to ulcer formation. Although many infected individuals hav  Read More

Histiocytosis X, also known as Langerhans cell histiocytosis, is a condition caused by the proliferation of abnormal Langerhans cells. It can occur at any age but is most common in kids younger than 15. It is rare and occurs in 1 or 2 newborns in a million. Abnormal Langerhans cells are dendritic antigen-presenting cells with abnormal proliferation and decreased capacity for antigen presentation. Histiocytosis X is either reactive or neoplastic.  Read More

Santavuori disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori disease is considered the infantile form of the neuronal ceroid lipofuscinoses. The NCLs are characterized by abnormal accumulation of certain fatty,  Read More

Infantile spinal muscular atrophy type I (SMA) is a genetic disorder that results in progressive muscle weakness in infants and children, typically before the age of 2. This disease is caused by a mutation in the SMN1 gene, which produces a protein called survival motor neuron. This protein is essential for normal nerve cell function. 1. The first signs of SMA typically begin between 6 and 18 months of age and inc  Read More

Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. Infants born with Jarcho-Levin syndrome have short necks, limited neck motion due to abnormalities of the cervical vertebrae and short stature. In most cases, infants with Jarcho-Levin syndrome experience respiratory insufficiency a  Read More

X-linked juvenile retinoschisis (RS) is a genetic disorder affecting males. Major symptoms include poor eyesight and degeneration of the retina. The retina consists of membrane layers in the eye that receive visual images. It is composed of supportive and protective structures, nervous system components and layers including "rods" and "cones." RS is due to splitting of the retina, which, in turn, causes slow, progressive loss of parts of the f  Read More

Meleda disease is an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Affected skin may be unusually red (erythema) and become abnormally thick and scaly (symmetrical cornification). Affected children may also exhibit various abnormalities of the nails; excessive sweating (hyperhidrosis) associa  Read More

Mast cells pathologically grow in cutaneous tissue and extracutaneous organs such as bone marrow, liver, spleen, and lymph nodes in various forms of the condition known as localized infantile mastocytosis. 1. Pediatric-onset mastocytosis and adult-onset mastocytosis are the two main age-related patterns in which the disease manifests, and they may differ in terms of clinical symptoms and how the disease develops.  Read More

This condition only found/occur in females  Read More

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypoton  Read More

Microcephaly is a condition where the head (circumference) is smaller than normal. Microcephaly may be caused by genetic abnormalities or by drugs, alcohol, certain viruses, and toxins that are exposed to the fetus during pregnancy and damage the developing brain tissue. Signs and symptoms of microcephaly may include a smaller than normal head circumference that usually remains smaller than normal as the child grows, d  Read More

An uncommon neurological condition known as Moebius syndrome causes many cranial nerves, most frequently the 6th (abducens) and 7th (facial) nerves, to become weak or paralysed (palsy). Sometimes other cranial nerves are impacted. The condition exists from birth (congenital). The person with Moebius syndrome is unable to pout, pucker the lips, lift the eyebrows, or close their eyelids if the 7th nerve is affected. The eye cann  Read More

Monosomy 18p syndrome, a rare chromosomal abnormality, is characterized by the deletion of all or a portion of chromosome 18's short arm (p) (monosomic). Short stature, varying degrees of mental impairment, speech delays, deformities of the skull and facial (craniofacial) area, or/and other physical anomalies are typical characteristics of the condition. Risk factors for the monosomy 18p syndrome 1. M  Read More

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypoton  Read More

The skeleton is typically affected by the uncommon genetic metabolic condition known as morquio syndrome. The specific GAG that accumulates in the body during Morquio Syndrome is known as keratan sulfate. This lysosomal storage disorder is a form of the autosomal recessive birth condition. GAG accumulation in many body regions results in symptoms in numerous organ systems. Treatment 1. Th  Read More

An uncommon inherited metabolic illness known as mucolipidosis II also called I-cell disease, causes mental impairment, coarse facial features, and skeletal deformities. I-cell disease symptoms are comparable to Hurler syndrome symptoms but are more severe. This disorder's symptoms, which can include numerous deformities of the skull and face as well as growth delays, often first become apparent in infancy. 1. Thi  Read More

Nager Acrofacial Dysostosis Syndrome is a rare genetically inherited disorder where the newborn shows signs of craniofacial malformations. It's mostly associated with irregularities of the thumb and forearms. In particular circumstances, underdevelopment of bones in the face and hands is visible, while poor development of the cheek and jaw area is seen. Weak movement in the elbow is Cures/medications for Nager Acro  Read More

Binder type maxillonasal dysplasia is a rare condition characterized by abnormal development (dysplasia) of the nasal and upper jaw (nasomaxillary) regions. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge; underdeveloped upper jaw; relatively protruding lower jaw (mandible); and/or a "reverse overbite" (class III malocclusion). In some rep  Read More

Oculo-dento-digital dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). There also have been a few instances in which it is thought to have been inherited as an autosomal recessive trait. Major symptoms of cculo-dento-digital dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye  Read More

Sydenham chorea is a rare neurological disorder characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands. Additional symptoms may include muscle weakness and emotional or behavioral problems. Sydenham chorea most often affects children and adolescents. Sydenham chorea usually develops following Streptococcal infection and may occur as an isolated finding or as a major complication of acute rheumatic fe  Read More

Roseola facts Roseola is a mild illness caused by a virus infection most commonly involving, young children. A sudden high fever that lasts for three to five days is an early feature of roseola. Mild nasal congestion and loose stools may accompany the fever. When the fever disappears, a rash appears, which may last one to two days. The rash is not contagious. Roseola usually resolves without any tre  Read More

Russell-Silver Syndrome is a genetic condition, classified under growth disorders that slow down and restrict development at the expected rate. It is prominent before and after birth. Babies born with this condition will weigh significantly less than healthy babies, and often fail to mature physically. In other words, they fail to thrive. Disproportionate head in relation to the rest of the body, low birth rate, as  Read More

Sandhoff disease is an exceedingly rare lysosomal storage condition. It induces nerve cell damage (neurodegeneration). This causes issues with thinking and movement. Sandhoff illness is caused by faulty HEXB gene mutations. Negative alterations in this gene result in lower levels of two enzymes in the cell's recycling centers (lysosomes). Certain fats (lipids) accumulate in enormous levels in nerve cells in the absence of thes  Read More

Ectrodactyly is another term for split-hand/split-foot malformation (SHFM). It is a limb deformity involving the central rays of the autopod and characterized by a deep median cleft of the hand and/or foot, as well as phalangeal, metacarpal, and metatarsal aplasia/hypoplasia. It might manifest as part of a syndrome or as a separate entity. SHFM affects approximately one in every 90,000 live births. SHMS manifests itself in two  Read More

Ectrodactyly is another term for split-hand/split-foot malformation (SHFM). It is a limb deformity involving the central rays of the autopod and characterised by a deep median cleft of the hand and/or foot, as well as phalangeal, metacarpal, and metatarsal aplasia/hypoplasia. It might manifest as part of a syndrome or as a separate entity. SHFM affects approximately one in every 90,000 live births. SHMS manifests itself in two ways: one is nonsyn  Read More

Tricho-dento-osseous (TDO) syndrome is an autosomal dominant genetic disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. TDO syndrome is characterized by kinky or curly hair; poorly developed tooth enamel; and unusual thickness and/or denseness (sclerosis) of the top portion of the skull (calvaria) and/or the long bones (i.e., bones in the arms  Read More

Thrush and other yeast infections in children can be treated with medicated suppositories and prevented at the earliest by following certain precautions. 1. Antifungal drugs: Thrush is easily treated with an antifungal medicine such as nystatin (Mycostatin®), fluconazole (Diflucan®), or itraconazole (Sporanox®). They are available as a syrup or a pill. The antibiotic nystatin is often prescribed for children  Read More

A congenital abnormality known as tracheoesophageal fistula with or without esophageal atresia (EA/TEF) causes the esophagus to narrow or stop. The majority of neonates with esophageal atresia also have a condition known as a tracheoesophageal fistula, which is an improper connection between the esophagus and the windpipe. Here are the symptoms: 1. Infants with tracheoesophageal fistula with or without  Read More

Tricho-dento-osseous (TDO) syndrome is an autosomal dominant genetic disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. TDO syndrome is characterized by kinky or curly hair; poorly developed tooth enamel; and unusual thickness and/or denseness (sclerosis) of the top portion of the skull (calvaria) and/or the long bones (i.e., bones in the arms  Read More

Normal liver function tests, high bilirubin levels, and genetic testing are all necessary for the diagnosis of unconjugated benign bilirubinemia to confirm the condition. The use of drugs to treat this syndrome is not justified because of how benign and unimportant it is. When using medications that are conjugated by the liver, such as acetaminophen and irinotecan, there is an increased risk of side effects and tox  Read More

Urinary tract infections are a fairly common problem in childhood and may have either a benign course responding to simple antibiotic therapy or be associated with significant disruption in either the anatomy or function of a child's urinary system. This article will focus on UTIs affecting children, with an emphasis on those less than 2 years of age. Because of their more unique and complicated nature, neonatal (less than 28 days of age) UTIs  Read More