Aplasia cutis congenita is a rare disorder that can cause significant skin loss at birth. Its diagnosis and treatment can be challenging, and there is currently no known cure. However, there are some effective treatments available that can help improve the appearance of the skin and minimize the risk of infection. There is no established cure or medication for aplasia cutis congenita. However, the condition is oft  Read More

There is currently no cure for auditory processing disorder in children, however, there are treatments that can help improve a child’s symptoms.1. Medications such as stimulants and antidepressants have been shown to be effective in some cases, but they are not always necessary. These are known to be effective because they can help improve focus and attention, which can be beneficial for children with an audi  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

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth retardation); characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe mental  Read More

Calcaneus valgus is a neonatal disorder caused by the intrauterine position. It is usually one-sided. The forefoot is dorsiflexed and abducted, whereas the heel is valgus. The ankle has restricted motion. As a result of the foot position, an external tibial torsion may arise, as well as an externally rotated tibia in some circumstances. Although the real cause of calcaneovalgus foot is unknown, one suggestion is that it is cau  Read More

Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic skin dimples to form over the curv  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

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

Childhood obesity can be managed by following certain therapies and weight-loss programs directed by pediatricians or therapists. 1. Therapy for childhood obesity is determined by your child's age and the presence of underlying medical issues. Treatment usually entails modifications in your child's food choices and amount of physical exercise. In some cases, treatment may entail drugs or weight-loss surgery. 2. Chi  Read More

Cradle cap causes crusty or oily scaly patches on a baby's scalp. The condition isn't painful or itchy. But it can cause thick white or yellow scales that aren't easy to remove. Cradle cap usually clears up on its own in a few months. Home-care measures include washing your baby's scalp daily with a mild shampoo. This can help loosen and remove the scales. Don't scratch cradle cap. If cradle cap persists or seems severe, your d  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

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly in range and severity from case to case, including among affected family members. However, in most infants with Crouzon syndrome, the fibrous joints between certain bones of the skull (cranial sutures  Read More

Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. These extra genes and DNA cause changes in the development of the embryo and fetus resulting in physical and mental abnormalities. Each patient is unique and there can be great variability in the severity of symptoms.  Read More

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people Ectrodactyly, which is  Read More

temporal lobe resection is a treatment not a disorder  Read More

Medication is usually the first line of treatment for vagus nerve stimulation (VNS). In the event that drugs are ineffective, doctors could recommend surgery or another form of treatment. 1. Medication The majority of epileptics can go epilepsy-free by using one anti-seizure medicine, commonly known as an anti-epileptic drug. A combination of drugs may help some people reduce the frequency and severity of th  Read More

Risk factors of Hartnup disease: 1. Hartnup disease is caused by mutations in the SLC6A19 gene. These mutations are inherited in an autosomal recessive manner. 2. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. 3. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same  Read More

The high scapula, also known as Scapula Elevata, or Sprengel Deformity, is a rare congenital disorder. There isn’t any cure for this disease; however, treatments can help. 1. Surgery is the standard treatment for Sprengel deformity. However, many affected individuals will not require surgical intervention because they have a mild form of the disorder with minimal restriction of movement. 2  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

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

Keratosis planopilaris transgrediens of siemens is a genodermatosis characterized by hyperkeratosis. Initially, keratosis begins on the palm and soles and spreads to the dorsal aspects of hands, fingers, and feet as well as flexor aspects of wrists and heels. The skin manifestations set in by the age of 3 to 5 years. abnormal expression of structural proteins involved in the skin is the cause of the condition. Ris  Read More

The unusual hereditary disorder known as Marinesco-Sjogren syndrome-myopathy affects a number of the body's organ systems. Among the more common signs of cerebellar ataxia include cataracts, delays in learning skills requiring the coordination of muscular and mental activity (psychomotor development), hypotonia, decreased muscle tone, and progressive muscle weakness. Many affected individuals exhibit additional physical proble  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

Multiple cartilaginous enchondroses are a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These may lead to bone deformities, limb discrepancy, and fractures. 1. The enchondromas mainly occur in the limbs, especially the bones of the hands and feet. During the growth period, they tend to develop at the ends of the bones,  Read More

Nance-Horan syndrome is a rare genetic condition inherited at the fetal stage and displayed at birth, existing due to a genetic variation in the NHS gene. Its inheritance is X-linked -- a dominant trait which means that while it affects both men and women, symptoms are more prominent in males. It is classified by deformities of the teeth and clouded eye lens, thus, leading to poor vision. Other eye abnormalities i  Read More

Pigmented Dermatosis, Siemens-bloch type, otherwise also termed as Incontinentia Pigmenti (PI) is a rare X-linked dominant genodermatosis condition. It’s more common in males and normally considered lethal pre-birth. Significant loss of hair of the scalp and body (alopecia), dental abnormalities (smaller than usual teeth, lesser teeth), eye issues that can cause vision loss, and linted/pinted fingernails as well as toena  Read More

Prader-Willi Syndrome is a result of the deletion of a portion of chromosome number 15, or genes on it are missing altogether. It is solely inherited from the father. It shows in physical characteristics such as behavioral problems, intellectual disabilities, sleep disorders, speech issues and, shortened stature and hormonal signs like late puberty, and constant sensation of hunger that eventually grows into obesity. Abnormal  Read More

A soft-tissue malignancy, in simple terms, is a type of cancer, while common in children, is comparatively rare in middle-aged adults (45+). It is said to be the result of translocation of primitive mesenchymal cells. This transformation occurs when parts of the DNA are swapped from one chromosome to another, and tends to occur at the time of a single cell splitting into two independent ones. Pulmonary Rhabdomyosarcoma  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

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

An uncommon genetic condition called vacterl association with hydrocephalus (VACTERL-H) or vater association with hydrocephalus affects numerous anatomical systems. The core characteristics of the disorder are sometimes not apparent in affected children until later in life. Cure or medication vacterl association with hydrocephalus 1. Treatment is made to fit each patient ’s individual results, it  Read More

At birth, vater association with hydrocephalus-affected children frequently have a number of congenital abnormalities. Congenital abnormalities and the associated symptoms can present differently in various affected people.This uncommon genetic condition called vacterl association with hydrocephalus (VACTERL-H) or vater association with hydrocephalus affects numerous anatomical systems. The core characteristics of  Read More

Vulgaris type disorder of cornification is an inherited skin disorder in which dead skin cells accumulate on a thick dry scale, on your skin’s surface. It is also called fish skin disease. It is usually present at birth or starts showing signs in early childhood. One should be careful as sometimes the condition goes untreated because it is confused with dry skin.Some cases are often mild but might get severe  Read More

Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a  Read More