Health and Fitness

  Berdon syndrome Overview Berdon syndrome, also known as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), is a rare, generally fatal autosomal recessive genetic disorder characterized by an abnormally large, non-obstructed urinary bladder (megacystis), an underdeveloped colon (microcolon), and reduced or absent intestinal peristalsis (hypoperistalsis), leading to functional intestinal obstruction. Symptoms include severe abdominal distension, failure to pass meconium, and voiding problems. While historically having a poor prognosis, advances in supportive treatments and management have led to increased survival rates.   Symptoms Megacystis : A significantly enlarged and non-obstructed urinary bladder, often visible on prenatal ultrasound, which is the most prominent symptom.  Microcolon: An abnormally small colon.  Intestinal Hypoperistalsis: Poor or absent movement of the intestinal muscles, leading to a lack of normal peristalsis.  Ab...

 Basan syndrome overview Basan syndrome is a rare, inherited skin disorder, specifically an autosomal dominant ectodermal dysplasia, characterized by the absence of fingerprints, congenital facial milia, rapidly healing neonatal blisters on the hands and feet, and reduced sweating. Other features can include digital contractures, thickened skin on palms and soles (palmoplantar keratoderma), nail abnormalities, and single transverse palmar crease. Caused by mutations in the SMARCAD1 gene, it affects the development of epidermal ridges and sweat glands.  Symptoms Skin & Fingerprints Congenital absence of fingerprints (Adermatoglyphia): A defining characteristic, with smooth skin on the palms and soles.  Transient congenital milia: Small, white, keratin-filled cysts that appear on the face and other areas shortly after birth and usually resolve.  Neonatal acral bullae : Blistering, often on the fingers and soles, that heals rapidly in the neonatal period.  Pa...

Bardet-Biedl syndrome (BBS) Overview Bardet-Biedl (BAR-day, BEE-dul) syndrome, also called BBS, is a rare condition caused by changes in genes. BBS can affect almost any part of the body. Starting in early childhood, extra weight gain and vision loss can happen. People with BBS also can have issues that include kidney conditions, changes in sex organ development, and extra fingers or toes. The condition can affect speaking, learning, thinking and memory. There is no cure for Bardet-Biedl syndrome, but early diagnosis and treatment for conditions related to BBS can ease symptoms, lessen complications and help with a better quality of life. Because BBS can affect many body systems, different specialists may be needed to manage care. Symptoms Symptoms of Bardet-Biedl syndrome develop slowly. The symptoms usually are noticed during the first 10 years of life, but sometimes later. Symptoms and when they begin can vary greatly among people with BBS. Some people may have only a few mild sympt...

Amelogenesis Imperfecta Overview Amelogenesis imperfecta is a genetic disorder that causes problems with how your tooth enamel forms. Enamel is the tough outer coating of your teeth that protects the delicate tissue inside. With amelogenesis imperfecta, not enough enamel forms. Or, the enamel that does form isn’t as strong as it should be. The disorder can cause your teeth to be discolored and weak. Amelogenesis imperfecta can make you feel self-conscious about your smile and anxious about tooth injuries that may land you in the dentist’s chair. Although it may take some time and patience, there are treatments that can strengthen your teeth and improve how they look. Types of amelogenesis imperfecta There are four main types of amelogenesis imperfecta, including: Type 1 — Hypoplastic. With enamel hypoplasia, not enough enamel forms. The enamel you do have may be thin. You may have smaller-than-average teeth with rough surfaces. Type 2 — Hypomaturation. This type happens when the prot...

Alport Syndrome   Overview Alport syndrome is a genetic condition in which your kidneys don’t produce normal type IV collagen proteins. Type IV collagen consists of three individual collagen chains (alpha chains) that twist together like rope. The chains are alpha 3, alpha 4 and alpha 5. If your body doesn’t produce one of these chains, the other two can’t combine. This results in the most severe Alport syndrome symptoms. If your body produces all of the chains but doesn’t make one correctly, sometimes the chains can’t combine and other times the chains combine but don’t function properly. Alport syndrome symptoms may be milder in these instances. Type IV collagen is an important protein in the filtration membranes in your kidneys (glomerular basement membranes or GBM). The GBM is part of a three-layer structure that filters your blood to remove toxins and other contents that your body doesn’t need to make urine (pee). The GBM also make sure that contents like blood cells and prote...

Alström Syndrome Overview Alström syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by vision and hearing abnormalities, and obesity in childhood, insulin resistance, diabetes mellitus, heart disease (dilated cardiomyopathy) and slowly progressive kidney (renal) dysfunction, potentially leading to renal failure. Additional symptoms including lung (pulmonary), liver (hepatic), kidney (renal), and endocrine dysfunction can also occur. Although some children may experience delays in attaining developmental milestones, intelligence is usually unaffected. Alström syndrome is caused by disruptions or defects (mutations) in the ALMS1 gene. The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. Alström syndrome is inherited as an autosomal recessive trait. Signs & Symptoms Alström syndrome may ...

Arnold Chiari Malformation Overview When the skull is smaller than usual  or misshapen , it presses on the brain and forces it downwards into the spinal canal  is known as a Chiari malformation. It typically affects the region of the brain called the cerebellum, which is responsible for controlling balance.  In most cases of Chiari malformation, it is present at birth. However, in some types , the symptoms develop later in childhood. Based on the severity, the patient may need regular monitoring.  The blog explains the Chiari malformation, its types, causes, symptoms, and various treatment options.  In the 1980s, Hans Chiari, an Austrian pathologist, first described this brain abnormality. Therefore, the condition was named after him.  Chiari malformation type 1 occurs when a section of the skull having a part of the cerebellum (brain) is deformed or is too small, thus crowding or putting pressure on the brain. The lower part of cerebellum is displaced into...