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ADNP Syndrome

ADNP Syndrome Overview ADNP syndrome, also called Helsmoortel-Van Der Aa syndrome, is a genetic disorder that affects brain development and can lead to a wide range of challenges. The symptoms can vary greatly from one child to another, but almost all affected children have developmental and intellectual delays, difficulties with motor function, delayed or absent speech and features of autism. The disorder can potentially affect multiple systems of the body including the brain, heart, immune system, gastrointestinal system, endocrine system and musculoskeletal system. Feeding and gastrointestinal issues are common, and many infants have low muscle tone (hypotonia) that can make them appear floppy. These children might also have sensory processing disorders, sleep problems and a high tolerance for pain, making it hard for parents to know when they are hurt. Most of the affected children have distinctive facial features, and many develop early primary tooth eruption and often have a happ...
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Autosomal dominant tubulointerstitial kidney disease

Autosomal dominant tubulointerstitial kidney disease Overview Autosomal dominant tubulointerstitial kidney disease–UMOD (ADTKD-UMOD) is a rare genetic disorder caused by mutations in the UMOD gene that leads to slowly progressive chronic kidney disease and high uric acid levels Symptoms Elevated blood creatinine: Often found by chance during routine blood tests.  Decreased GFR: A drop in the glomerular filtration rate showing reduced kidney function. High uric acid and gout: High blood levels of uric acid leading to painful joint inflammation (gout) often start in the teen years for patients with specific gene types like ADTKD-UMOD. Nocturia and thirst: Waking up at night to pass urine (nocturia) or feeling an increased thirst because kidneys lose the ability to concentrate urine.  Fatigue and weakness: Extreme tiredness caused by anemia (low red blood cell count). Loss of appetite: Decreased desire to eat. High blood pressure: Can develop or modestly increase as kidney d...
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Lipoma

  Lipoma Overview A lipoma is a slow-growing, fatty lump that most often is located between the skin and muscle layer but below the skin. It feels soft and rubbery and often isn't tender. It also moves with slight finger pressure as if not connected to the skin above. Lipomas often are detected in middle age. Some people have more than one lipoma. A lipoma isn't cancer, and it typically is harmless. Treatment generally isn't needed, but if the lipoma bothers you, or if it's painful or growing, you may want to have it removed. Symptoms Lipomas can occur anywhere in the body. They are: Just under the skin. They commonly occur in the areas of the neck, shoulders, back, abdomen, arms and thighs. Soft and doughy to the touch. They also move easily with slight finger pressure. Generally small . Lipomas are typically less than 1 to 2 inches (3 to 5 centimeters) in diameter, but they can grow. Sometimes painful . Lipomas can be painful if they grow and press on nearby nerves o...
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Glutamate formiminotransferase deficiency

  What is glutamate formiminotransferase deficiency? Glutamate formiminotransferase deficiency is an inherited (genetic) condition that prevents the breakdown of histidine. Histidine is an amino acid, one of the building blocks that makes up proteins. Formiminotransferase cyclodeaminase (FTCD) is an enzyme in your body that helps break down histidine. This enzyme also helps make an important vitamin called folate. Without enough working FTCD enzyme, your baby will have trouble breaking down histidine and making folate. Most babies with glutamate formiminotransferase deficiency are well or have very few signs and symptoms. Glutamate formiminotransferase deficiency may be detected by newborn screening. Newborn screening requires collecting a small amount of blood from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page. Screening measures how much of certain substances (called acylcarnitines) are in your baby’s blood. While looking at acylcarnitine...
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DOCK8 Immunodeficiency Syndrome

DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called eczema, food or environmental allergies, and asthma. DOCK8 immunodeficiency syndrome is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels can be more than 10 times higher than normal for no known reason. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergi...
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Renal tubular dysgenesis

Renal tubular dysgenesis Overview Renal tubular dysgenesis is a severe fetal kidney disorder characterized by the absence or poor development of the proximal tubules, leading to persistent lack of urine production before birth Symptoms   Anuria: Total lack of fetal urine production, leading to severe and persistent low amniotic fluid levels. Oligohydramnios: Profoundly low amniotic fluid during pregnancy, usually starting around the 20th week or earlier.  Potter Sequence: A group of features caused by low amniotic fluid and compression in the womb, including flattened facial features, large and low-set ears, excess skin, and clubfeet.  Pulmonary Hypoplasia: Severely underdeveloped lungs that cause major breathing failure at birth. Severe Arterial Hypotension: Dangerously low blood pressure occurring in the fetus or newborn.  Skull Ossification Defects: Abnormal or delayed bone formation in the skull, leaving large soft spaces (fontanelles) due to low blood flow ...
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Anonychia congenita

Anonychia congenita Overview Anonychia congenita is a rare genetic condition where a baby is born without all or some of their fingernails and toenails.  Symptoms Missing nails: Complete or partial absence (hyponychia) of nail plates on fingers and toes from birth. Normal surrounding skin: The skin, tips of digits, and nail beds look and function normally. No systemic illness: The condition is typically painless and does not cause other major health problems Bone defects: Missing or underdeveloped finger bones, toe bones, or kneecaps.Teeth abnormalities: Unusual shape or development of teeth.Hair or skin changes: Sparse hair or unusual skin pigmentation patterns. Causes RSPO4 Gene Mutations: Mutations in the RSPO4 (R-spondin 4) gene on chromosome 20p13 are the most common cause. This gene helps control the Wnt signaling pathway, which is essential for forming tissues like fingernails and toenails.naffected carriers. Autosomal Dominant Inheritance: Less commonly, some families sh...
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