Health and Fitness

Pierre Robin Syndrome (Pierre Robin Sequence) Overview Pierre Robin syndrome (PRS), or Pierre Robin sequence, is a rare birth defect that happens during fetal development. It’s a group of conditions that affect your baby’s jaw and mouth so it may be hard for them to breathe, nurse or feed from a bottle. Most babies receive a diagnosis right after they’re born. Your baby’s healthcare providers will recommend treatment and things that you can do to help your baby. They may use other names like Pierre Robin malformation when talking about this syndrome. Symptoms Pierre Robin syndrome causes physical differences that you and your baby’s healthcare team may notice right after your baby is born, including: Small lower jaw and chin (micrognathia). Cleft palate. Tongue that falls back toward their throat (glossoptosis). A high-arched palate (roof of the mouth). Teeth that are visible at birth (natal teeth). These physical differences from PRS may cause symptoms like: Stridor or stertor (noisy ...

Phelan-McDermid Syndrome Overview Phelan-McDermid syndrome is a rare genetic disorder that may cause a range of medical, intellectual and behavioral concerns. These concerns may include: Feeding difficulties. Muscle weakness. Speech and developmental delays. Autism spectrum disorder. Epilepsy. The disorder is also called 22q13.3 deletion syndrome. Symptoms The signs and symptoms of Phelan-McDermid syndrome vary widely. They may be mild, moderate or severe. They may appear at birth, during infancy or in early childhood. And they may be physical, behavioral, intellectual or a combination. Symptoms your child may have include: Developmental delay (not hitting milestones at expected times, such as rolling over, sitting up or walking). High pain tolerance. Muscle weakness (hypotonia). Speech problems (absent or delayed ability to talk). Sleep disorders. Tendency to sweat less than normal, which can lead to overheating and dehydration. Trouble eating or swallowing. Gastrointestinal issues li...

Pfeiffer Syndrome --- Overview Pfeiffer syndrome is a genetic condition where the bones (sutures) in the skull close before the brain is fully grown (craniosynostosis). This causes deformities. Characteristics that lead to a Pfeiffer syndrome diagnosis include an underdeveloped or sunken face, bulging or wide eyes and an abnormally shaped head. Another characteristic is when the thumbs and the first (big) toe bends away from other fingers and toes. What are the types of Pfeiffer syndrome? There are three different types of Pfeiffer syndrome based on the severity of the condition, including: Type 1: Type 1 or classic Pfeiffer syndrome has mild symptoms, including facial deformities and well-defined thumbs and big toes. Children diagnosed with classic Pfeiffer syndrome usually have an average life expectancy and typical intelligence with treatment. Type 2: Type 2 Pfeiffer syndrome is more severe than type 1, often with more complex bone growth abnormalities in the hands and feet. Symptom...

Paraneoplastic Cerebellar Degeneration Overview Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to an underlying malignant tumor. Patients with paraneoplastic neurological syndrome (PNS) most often present with neurologic symptoms before an underlying tumor is detected or coincide with the cancer diagnosis.  Paraneoplastic neurologic syndromes include a variety of neurologic disorders, such as paraneoplastic cerebellar degeneration (PCD), that are caused by an immune-mediated mechanism rather than a metastatic complication or medication effect. Any malignancy can cause a paraneoplastic syndrome and any part of the nervous system can be involved depending on the type of primary malignancy. These syndromes affect 1–3% of all cancer patients. These syndromes are difficult to diagnose and typically respond poorly to treatment. However, the oncologic outcome of patients with antibody-associated paraneoplastic syndromes does...

 Pachydermoperiostosis Overview Pachydermoperiostosis, also called primary hypertrophic osteoarthropathy (PHO) is a rare genetic condition. The three main features are large finger tips (clubbing), thickening of the skin of the face (pachydermia) and extra sweating (hyperhidrosis). It typically starts during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Pachydermoperiostosis is the complete form of PHO where there is also unusual thickness of the skin (pacydermia). There are also two incomplete forms, one with isolated bone problems and skin changes, and one with pachydermia and minimal or absent new bone growth (periostosis). Symptoms PHO is characterized by problems with the growth of skin and bones. People with PHO usually have coarse facial features with oily, thick, grooved skin on the face, joint pain, large tips of the fingers and toes (clubbing) and extra sweating of the hands and feet (hyperhidrosis). New bone growth...

Osteogenesis Imperfecta Overview Osteogenesis imperfecta (OI) is a connective tissue disease. It makes your bones fragile. You might break a bone with little or no force. That’s why OI is also known as brittle bone disease. It makes your bones weaker and thinner than they should be. Osteogenesis imperfecta also affects your body’s ability to make collagen properly. Collagen is a protein. It helps develop your: Bones Skin Muscles Tendons Osteogenesis imperfecta can cause many broken bones throughout your life. It can also affect your: Teeth Skin Spine Lungs Other internal organs The most common form of osteogenesis imperfecta usually causes mild symptoms. But OI can also cause severe disabilities and be fatal. Types of osteogenesis imperfecta Healthcare providers classify osteogenesis imperfecta into 19 types. Types I through IV are the most common. People with type I have lower amounts of normal collagen than they should. People with types II, III and IV have improperly formed collagen...

Conduct Disorder Overview Conduct disorder (CD) is a mental health condition that affects children and teens that’s characterized by a consistent pattern of aggressive behaviors and actions that harm the well-being of others. Children with conduct disorder also often violate rules and societal norms. Conduct disorder lies on a spectrum of disruptive behavioral disorders, which also includes oppositional defiant disorder (ODD). In some cases, ODD leads to CD. Conduct disorder often occurs alongside other psychiatric conditions, including: Depression. Attention-deficit/hyperactivity disorder (ADHD). Learning disorders. What is the difference between conduct disorder and personality disorders? A personality disorder is a mental health condition that involves long-lasting, disruptive patterns of thinking, behavior, mood and relating to others. Most personality disorders begin in the teen years when personality further develops and matures. As a result, almost all people diagnosed with pers...

Noonan syndrome Overview Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems. It also can cause a child to develop more slowly than usual, for example, in walking, talking or learning new things. A changed gene causes Noonan syndrome. A child inherits a copy of an affected gene from a parent. This is called dominant inheritance. The condition also can occur as a spontaneous change. This means there's no family history involved. Doctors manage Noonan syndrome by controlling the symptoms and complications. They may use a growth hormone to treat short height in some people with Noonan syndrome. Symptoms Symptoms of Noonan syndrome vary greatly and range from mild to severe. These symptoms may be related to the specific gene containing the change. Facial features How the face looks is one key feature that lea...

Prurigo Nodularis Overview Prurigo nodularis (PN) is a skin condition that causes hard, raised bumps on your skin. The bumps are often dry and crusty on top. They’re extremely itchy, especially at night. You might only have a few bumps or a large collection of bumps in one area. Scratching the bumps can lead to bleeding or scarring. Prurigo nodularis can develop anywhere on your body, but it’s often on your: Abdomen. Arms. Legs. Scalp. Shoulders. Upper back. This condition is chronic, which means that it often lasts a long time, or gets better and comes back again (recurs). Who gets prurigo nodularis? Anyone can get prurigo nodularis, though it’s more common in: African Americans. Adults between ages 40 and 69. Women. Certain skin diseases can increase your risk of PN, including: Bullous pemphigoid. Cutaneous T-cell lymphoma. Eczema (atopic dermatitis). Keratoacanthomas (skin tumor caused by sun exposure). Lichen planus. Other types of prurigo. Psoriasis. Severely dry skin (Xerosis cut...

Niemann-Pick disease0 Overview Niemann-Pick disease is a group of rare conditions passed down in families. The conditions affect the body's ability to break down and use fats, such as cholesterol and lipids, inside cells. Because of the buildup of fats, these cells don't work as they should and, over time, the cells die. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow. Sometimes it can affect the lungs. Symptoms of Niemann-Pick disease relate to worsening function of the nerves, brain and other organs over time. Niemann-Pick disease can happen at different ages but mainly affects children. The condition has no known cure and is sometimes fatal. Treatment is focused on helping people live with their symptoms. Symptoms The three main types of Niemann-Pick disease are called A, B and C. Symptoms differ widely but depend in part on the type and how severe the condition is. Symptoms may include: Loss of muscle control, such as clumsiness and problems...