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

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

The term "craniofacial" refers to the bones of the skull and face, which can malform the face or the head if they develop improperly. An illness, a trauma, or a birth flaw can cause the craniofacial syndrome. There are many different types of craniofacial syndromes. Symptoms: Depending on which regions of the baby's skull are impacted, the craniofacial syndrome can range from mild to severe. There are  Read More

Infantile apnea is a disorder characterized by pauses in breathing during infancy. It is characterized by apnea, or cessation of breathing, for 20 seconds or more. These pauses may occur dozens of times per day and can last for several minutes. It is a potentially life-threatening condition that requires immediate medical attention. There is no known cure for infantile apnea, but there are certain medications that can he  Read More

Infantile spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons of the spinal cord. It is the most common form of SMA, and it usually appears at birth or during infancy. The first signs are often poor suckling reflexes and a weak cry, which may be followed by muscle weakness and stiffness in the arms and legs. As the disease progresses, it typically causes permanent disability. There a  Read More

Jarcho-Levin syndrome is not currently curable. However, there are a few different medications that may help to decrease the symptoms of this disease. 1. Irinotecan: This is the most common drug used for treating jarcho levin syndrome, and it works by inhibiting the growth of cancer cells in the body. It's usually administered intravenously once every two weeks to three months, depending on how quickly your tumor  Read More

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This condition is characterized by a specific finding on an MRI called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyper  Read More

Laband syndrome, also known as Zimmerman-Laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children with this disorder have abnormally large gums (gingival fibromatosis). Overgrown gums may affect the ability to chew, swallow, and/or speak. In addition, affected infants may exhibit abnormally long, thin fingers and toes and/or deformed (  Read More

Different types of lung-related issues, from having holes to unusual enlargement caused due to obstruction of airways, is Lobar Emphysema Infantile. Cure/medications: Depending upon the seriousness of symptoms, treatments and drugs are as follows: 1. Beta-Agonists: This is a long-term therapy suggested for patients suffering from asthmatic symptoms due to lung Lobar syndrome. Inhalers to  Read More

An autoimmune disorder called moravcsik-marinesco-sjogren syndrome makes your immune system malfunction and attack healthy cells instead of foreign bacteria or viruses. Your white blood cells target the glands in charge of producing moisture instead of protecting you from pathogens as they would normally do. When that occurs, they are unable to produce saliva or tears, which causes your mouth, eyes, and other body parts to dry  Read More

Postanesthetic apnea is a condition that can occur after surgery. People with this condition may have difficulty breathing and may need help from a ventilator. There is no cure for postanesthetic apnea, but it is generally a temporary condition that resolves on its own. Medications may be used to help people with this condition breathe more easily. There is no known cure for postanesthetic apnea. However, there ar  Read More

Rubinstein-Taybi Syndrome is a genetic disorder characterized by shortened stature, mild to severe intellectual disabilities, peculiar facial features, broader thumbs and first toes, abnormalities of the eyes, kidney and heart complications, dental issues, and obesity. The life expectancy of affected children does not exceed 5 years of age. Mutations of certain genes in the DNA are the primary cause, making it a ge  Read More

The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  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

A full evaluation by a speech-language pathologist is required before deciding on the appropriate treatment option. There are several ways approved to treat children and adults who stammer. Because everyone's challenges and requirements are different, a strategy — or combination of ways — that works for one person might not always work as well for another. Treatment may not completely cure stuttering, b  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

The esophagus and the trachea are connected by a fistula called a tracheoesophageal fistula. The tube that joins the throat and the stomach is known as the esophagus. The trachea is the tube that joins the windpipe and lungs to the throat. The esophagus and trachea are two separate tubes in their natural state. Tracheoesophageal fistula is a birth defect that implies that you are born with the issue. It took place  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

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a pear-shape  Read More

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More