Health and Fitness

Atelosteogenesis type 2 Overview Atelosteogenesis type 2 is a severe, rare genetic disorder of cartilage and bone development that is typically lethal around the time of birth. Symptoms Short limbs: Infants have severely shortened arms and legs (micromelia) due to underdevelopment of the bones. Chest and abdomen: Affected babies typically present with a narrow, small chest alongside a prominent, rounded (protuberant) abdomen. Cleft palate: There is an opening in the roof of the mouth. Facial features: Distinctive or abnormal facial dysmorphism is common. Foot deformities: Clubfoot (talipes equinovarus), where the foot turns inward and downward, frequently occurs. Hand and foot positioning : Unusually positioned "hitchhiker" or abducted thumbs and toes are characteristic findings, along with gaps between the first and second toes and ulnar deviation of the fingers Deficient ossification : Parts of the skeleton lack proper bone hardening and development. Spinal abnormalitie...

Cytochrome P450 oxidoreductase deficiency (PORD) Overview               Cytochrome P450 oxidoreductase deficiency (PORD) is a rare genetic disorder of hormone production that causes abnormal bone development, atypical genital development, and problems with cortisol.  Symptoms Primary amenorrhea: Failure to start menstruation by age 16.Infertility: Affects both men and women Polycystic ovary syndrome (PCOS): Hormonal imbalance causing irregular periods, ovarian cysts, acne, or excess hair growth. Hypogonadism: Poor hormone production in males, leading to delayed puberty. Ambiguous genitalia: External sex organs that do not look clearly male or female in newborns of either genetic sex. Cortisol deficiency: Partial reduction in the stress hormone cortisol, which can lead to life-threatening adrenal crisis during severe stress or illness. Maternal virilization: Development of male-pattern secondary sex characteristics in pregnant women carrying an...

Hereditary antithrombin deficiency Hereditary antithrombin deficiency is a rare genetic blood disorder that significantly increases the risk of abnormal blood clots forming in the veins Symptoms Deep Vein Thrombosis (DVT) : Clots in the deep veins of the legs or arms causing pain, tenderness, swelling, warmth, and red or purple skin color. Pulmonary Embolism (PE) : A dislodged clot traveling to the lungs, causing sudden shortness of breath, rapid breathing, chest pain, or a rapid heart rate. Unusual Clot Locations: Clots can occasionally form in the veins of the abdomen (mesenteric thrombosis) or the brain (cerebral vein thrombosis), leading to severe abdominal pain or severe headaches Causes  SERPINC1 Gene Mutations: This gene gives instructions to make antithrombin, a protein that stops blood from clotting too much. Type 1 (Quantitative) Deficiency: Caused by nonsense mutations, frameshifts, or large deletions that stop the body from making enough normal antithrombin protein. B...

Ankyrin-B syndrome Overview Ankyrin-B syndrome is an inherited heart rhythm disorder caused by mutations in the ANK2 gene that disrupt electrical signaling in cardiac muscle cells. It is an autosomal-dominant condition, meaning one copy of the altered gene in each cell is enough to cause the disorder.The ANK2 gene makes the ankyrin-B protein, which acts as an anchor to place ion channels and transporters in the correct spots on heart cell membranes.When mutations cause a loss of function, ion and calcium regulation fails, leading to abnormal heartbeats. Symptoms Bradycardia: A resting heart rate that is much too slow. Sinus arrhythmia: An irregular heartbeat pattern originating from the heart's natural pacemaker. Atrial fibrillation: Chaotic and uncoordinated electrical signals in the upper chambers of the heart. Conduction block: Delays or stops in the electrical signals moving between the heart's chambers. Prolonged QT interval : A delay in how long the heart takes to "...

Gillespie syndrome Overview Gillespie syndrome is an ultra-rare genetic disorder defined by a classic triad of partial aniridia (missing parts of the iris), cerebellar ataxia (balance and coordination problems), and mild to moderate intellectual disability. Symptoms Eye (Ocular) Symptoms Partial aniridia: Underdevelopment or partial absence of the colored part of the eye (iris) in both eyes. Scalloped pupils: A unique, uneven scalloped pattern at the inner edge of the iris. Fixed dilated pupils: Enlarged pupils that do not constrict when exposed to light. Photophobia : Increased sensitivity to light.Nystagmus: Rapid, involuntary eye movements Reduced visual acuity : Blurry vision. Balance and Movement (Neurological) Symptoms Cerebellar ataxia : Poor balance, lack of coordination, and an unsteady gait (walking pattern) caused by underdevelopment of the cerebellum. Congenital hypotonia: Weak muscle tone present from birth. Motor delay : Late achievement of developmental milestones, s...

Christianson Syndrome Overview What is Christianson syndrome? Christianson syndrome is a rare genetic disorder. It causes severe problems with your nervous system. People with this condition have trouble walking and speaking. They typically also have developmental delays or intellectual disabilities. People with Christianson syndrome often start showing symptoms of the condition when they’re infants. Who does Christianson syndrome affect? Christianson syndrome mostly affects males. The condition is an “X-linked genetic disorder.” This means it occurs because of a change (mutation) in X chromosomes. Why does Christianson syndrome only affect males? Females have two X chromosomes, while males have one X chromosome and one Y chromosome. If a female has the mutation that causes Christianson syndrome on one X chromosome, they still have one functioning X chromosome. Because of this, they aren’t likely to develop Christianson syndrome. If a male has the gene mutation, they have no other X ch...

Angelman syndrome Overview Angelman syndrome is a rare genetic condition that affects the nervous system. It happens when the maternal UBE3A gene does not work as expected. This change leads to delayed development, trouble with speech, challenges with balance and movement, and intellectual disability. Seizures also are common. Many children with Angelman syndrome smile or laugh often and appear easily excited. These behavior traits may be early clues for families and care teams. Delays in maturing, called developmental delays, begin between about 6 and 12 months of age. The delays often are the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old. People with Angelman syndrome tend to live close to a typical lifespan. But the condition can't be cured. Treatment focuses on supporting development, building communication skills, and managing medical, sleep and developmental issues. Symptoms Early signs of Angelman syndrome can be subtle at first, ...