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

The most common type of pediatric cancer is childhood Acute Lymphoblastic Leukemia (ALL). It is a kind of blood and bone marrow cancer that spreads swiftly and can be lethal within a few months if left untreated.Treatment1. Children experiencing acute lymphoblastic leukemia might receive a variety of treatments (ALL). Some therapies are mainstream (already used), while others are being investigated in clinical stud  Read More

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, and mental retardation. In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypo  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

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, and mental retardation. In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypo  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

Kugelberg-Welander syndrome, also known as spinal muscular atrophy type 3, is a milder form of spinal muscular atrophy (SMA). SMA causes the degeneration of horn cells in the spinal cord and the destruction of associated alpha neurons. Type 3 disproportionately affects legs over arms. While the patient may be able to walk, he/she may require a wheelchair as the disease progresses. The common age of onset is three years. In rar  Read More

Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months and nine years. Major symptoms may include blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infection.  Read More

Short stature, delayed puberty in men, small heads, seizures, learning problems, underdeveloped sex organs, susceptibility to infections, and/or short hair are some signs and symptoms of Ring chromosome 21 that may be present.Some persons exhibit traits and symptoms resembling those of others with Down syndrome. Ring chromosome 21 can be randomly acquired (by chance) during the development of egg or sperm cells or  Read More