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Gillespie syndrome

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...
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Christianson Syndrome

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...
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Angelman syndrome

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, ...
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Malignant hyperthermia

Malignant hyperthermia Overview Malignant hyperthermia is a severe reaction to certain drugs used for anesthesia. This severe reaction typically includes a dangerously high body temperature, rigid muscles or spasms, a rapid heart rate, and other symptoms. Without prompt treatment, the complications caused by malignant hyperthermia can be fatal. In most cases, the gene that puts you at risk of malignant hyperthermia is inherited, though sometimes it's the result of a random genetic change. Genetic testing can reveal whether you have an affected gene. This genetic disorder is called malignant hyperthermia susceptibility (MHS). Treatments for malignant hyperthermia include the medication dantrolene (Dantrium, Revonto, Ryanodex), ice packs and other measures to cool body temperature, as well as supportive care. Symptoms In most cases, no signs or symptoms of susceptibility to malignant hyperthermia exist until you're exposed to certain drugs used for anesthesia. Signs and symptoms ...
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Androgenetic alopecia

Androgenetic alopecia Overview Androgenetic alopecia is a common, genetically determined form of gradual hair loss driven by sensitivity to male sex hormones like dihydrotestosterone (DHT). Symptoms General Signs Gradual onset: Hair loss develops slowly over years.No pain or itching: The scalp usually feels normal without redness, scaling, or irritation. Hair miniaturization: Thick strands slowly turn into thin, short, wispy peach fuzz. Symptoms in Men Receding hairline: Hair starts pulling back at the temples. M or U shape: The hairline forms a distinct "M" or "U" shape. Crown thinning: Hair thins or forms a bald spot at the top back of the head (vertex).Symptoms in Women Widening part: The center part in the hair gets broader over time.Preserved hairline: The front hairline usually stays in place. Diffuse thinning: Volume decreases across the top of the head rather than creating smooth bald spots. Causes Hormones (DHT): An enzyme called 5-alpha-reductase conv...
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Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome What Is Androgen Insensitivity Syndrome? Androgen insensitivity syndrome (AIS) is a rare condition that affects sexual development. It occurs when someone is genetically male, but their body doesn’t respond to male sex hormones called androgens. This results in a person having male sex chromosomes (one X and one Y chromosome) but not having male genitals. AIS affects males during fetal development and during puberty. AIS was previously called testicular feminization syndrome. AIS happens due to genetic mutations, which are changes to genes that affect how they function. With AIS, the gene mutation prevents male genitals from developing in people who are genetically male. AIS almost always results in infertility. Receiving an AIS diagnosis for yourself or your child can be difficult. The condition isn’t life-threatening, but people with AIS may struggle with gender identity or have concerns about their body image. It’s helpful to have a supportive network...
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Acute Promyelocytic Leukemia

Acute Promyelocytic Leukemia Overview What is acute promyelocytic leukemia (APL)? Acute promyelocytic leukemia (APL) is a rare blood cancer. It’s a form of acute myeloid leukemia that happens when a genetic mutation (change) creates abnormal white blood cells that multiply uncontrollably in your bone marrow. Healthcare providers may call this condition APL leukemia or M3-leukemia. APL is a serious condition with life-threatening symptoms, including excessive bleeding, which come on suddenly and quickly get worse. Thanks to treatment that’s an innovative combination of chemotherapy and non-chemotherapy drugs, healthcare providers can treat and often cure acute promyelocytic leukemia. Symptoms What are the symptoms of acute promyelocytic leukemia? Acute promyelocytic leukemia (APL) symptoms develop when your bone marrow can’t make normal numbers of red blood cells, white blood cells and platelets. If you have low blood cell levels (pancytopenia), you may develop serious symptoms, includi...
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