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Congenital Afibrinogenemia

Disease Overview Summary Congenital afibrinogenemia is a rare bleeding disorder characterized by absence of fibrinogen (also known as coagulation factor I) in the blood, a protein that is essential in the blood clotting (coagulation) process. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Bleeding can occur anywhere in the body, including the skin, nose, oral cavity, gastrointestinal tract, liver, genital and urinary tract, joints, muscles and central nervous system. Bleeding can also happen in the skull (intracranial hemorrhage) and is a leading cause of death and disability in individuals with congenital afibrinogenemia. Women are at increased risk for vaginal bleeding and increased blood loss during menstruation and tend to have recurrent miscarriages. Other manifestations of the disease include risk of spontaneous spleen rupture, formation of painful bone cysts, poor wound healing and increased risk of ...

Palate syndrome

Palate syndrome Overview A "palate syndrome" typically refers to congenital conditions involving an opening or split in the roof of the mouth (cleft palate). These can occur in isolation or as part of a wider genetic disorder, like DiGeorge syndrome (22q11.2 deletion), and often require coordinated surgical and speech therapy. Symptoms Palate syndrome symptoms most commonly present as feeding difficulties (milk or food coming out of the nose), speech abnormalities (nasally sounding voice or hypernasality), frequent ear infections, and dental misalignments. These traits are heavily associated with congenital conditions like cleft palate or syndromes involving a high-arched palate.Because the term "palate syndrome" can refer to several distinct medical conditions (such as cleft palate, submucous cleft palate, or syndromes that impact the structure of the mouth), symptoms are categorized below by the primary functional area the...

Hyperkalemic Periodic Paralysis

Hyperkalemic Periodic Paralysis What Is Hyperkalemic Periodic Paralysis? Hyperkalemic periodic paralysis (hyperKPP or HYPP) causes sudden episodes (attacks) of muscle weakness or temporary paralysis. It happens when potassium levels in your blood get too high. Hyperkalemia means your blood has more potassium than normal. Potassium is an important mineral that helps muscles contract and work properly. During an attack, the extra potassium can get in the way of muscle control. Attacks for this rare genetic disorder often last 15 minutes to an hour. But sometimes, they may be longer. The condition can start in childhood, adolescence or early adulthood. Many people notice their first episode before age 20. Treatment may not stop every episode, but it can make attacks happen less often. Symptoms HyperKPP mostly affects the muscles in your arms and legs. The symptoms come and go, which means they shouldn’t last forever. Common symptoms include: Muscle weakness or paralysis Muscle stiffness P...

CLN4 disease

CLN4 disease Overview CLN4 disease, a rare form of Batten disease (Kufs type), is an adult-onset neurodegenerative disorder caused by mutations in the DNAJC5 gene. It leads to the toxic buildup of cellular waste in the brain, resulting in seizures, dementia, and movement disorders. It is unique as the only dominantly inherited NCL CLN4 disease (Ceroid Lipofuscinosis, Neuronal, Type 4) is a rare, progressive genetic disorder that belongs to a group of diseases collectively known as Batten disease. Unlike most other forms of Batten disease, which typically affect children, CLN4 disease is an adult-onset condition and is uniquely the only form inherited in an autosomal dominant manner. Symptoms 1. Movement and Motor Symptoms Myoclonic epilepsy: Uncontrollable, sudden muscle jerks or spasms.Ataxia: Problems with balance and poor coordination of voluntary muscles. Tremors and motor tics: Shakiness and involuntary muscle movements. Dysarthria: Difficulty sp...

Triple A syndrome

Triple A syndrome Overview AAA syndrome, also known as Allgrove syndrome, is a rare inherited genetic disorder named for its three cardinal symptoms: achalasia, adrenal insufficiency (Addison's disease), and alacrima (the inability to produce tears). It is caused by mutations in the AAAS gene and follows an autosomal recessive pattern of inheritance.The condition is a multisystem disorder characterized by a highly variable timeline of symptom onset Symptoms The Three Core Symptoms (AAA) Alacrima: The inability to produce tears, often the first noticeable sign in infancy. This can lead to dry eyes and potential vision issues if untreated. Achalasia : An esophageal motility disorder causing difficulty swallowing liquids and solids, food getting stuck in the chest, regurgitation, vomiting, and severe weight loss. Adrenal Insufficiency: A failure of the adrenal glands, leading to Addison's disease symptoms such as extreme fatigue, low blood pressure, low blood sugar (hypoglyce...

17 alpha-hydroxylase/17,20-lyase deficiency

17 alpha-hydroxylase/17,20-lyase deficiency Overview 17 alpha-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. It disrupts cortisol and sex steroid synthesis, leading to excess mineralocorticoids. This causes high blood pressure (hypertension), low potassium (hypokalemia), and abnormal sexual development Symptoms 1. High Blood Pressure and Electrolyte Imbalance Because sex hormone and cortisol production is impaired, the body overproduces precursor hormones (like corticosterone) that act as strong mineralocorticoids. Hypertension (High Blood Pressure) : Often develops in childhood or adolescence and is frequently severe. Hypokalemia (Low Potassium): The excess mineralocorticoid activity causes the kidneys to excrete too much potassium, leading to symptoms like muscle weakness or fatigue. 2. Genetic Males (46,XY) Because androgens are required for the development of male sex organs, a deficiency in these hormone...