45, X karyotype. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often. Turner syndrome is not usually inherited from a person's parent Trisomy 21. Typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this can vary widely. No cure. They also typically have poor immune function. They have an increased risk of a number of other health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders, among others. May have some or all of these physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue. Other common features include: a flat and wide face, a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers. Slower growth in height Genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in males, among others. Inherited autosomal recessive. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly normal.cCFTR is involved in production of sweat, digestive fluids, and mucus. When CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. No cure. Most common in N European ancestry, least common in African or Asian ancestry. Aka Escalante's syndrome or Martine-Bell syndrome. Similar symptoms as autism. Inherited cause of mental disability, especially in males. Physical characteristics such as an elongated face, large or protruding ears, low muscle tone, and large testicles (macroorchidism), and behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety. Associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal (unaffected by the syndrome), a premutation (at risk of fragile X associated disorders), or full mutation (usually affected by the syndrome Typically autosomal recessive. Genetic defect in a cluster of proteins responsible for DNA repair. Majority of FA patients develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60-75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Median age of death was 30 years in 2000. Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow transplant if a donor is available.Slightly higher frequency in Ashkenazi Jews in Israel and Afrikaners in South Africa. About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome, there is a 50% chance that male offspring will present with Fanconi anemia. Inherited severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. Dysfunctional metabolism of sphingolipids, which are fats found in cell membranes, so it is a kind of sphingolipidosis. Mutations in SMPD1 (type A/B) and mutations in NPC1/2 (type C). Symptoms are related to the organs in which sphingomyelin accumulates. Enlargement of the liver and spleen (hepatosplenomegaly) may cause reduced appetite, abdominal distension, and pain. Enlargement of the spleen (splenomegaly) may also cause low levels of platelets in the blood (thrombocytopenia). Accumulation of sphingomyelin in the central nervous system (including the cerebellum) results in unsteady gait (ataxia), slurring of speech (dysarthria), and difficulty in swallowing (dysphagia). Basal ganglia dysfunction causes abnormal posturing of the limbs, trunk, and face (dystonia). Upper brainstem disease results in impaired voluntary rapid eye movements (supranuclear gaze palsy). More widespread disease involving the cerebral cortex and subcortical structures causes gradual loss of intellectual abilities, causing dementia and seizures. Bones can also be affected: symptoms can include enlarged bone marrow cavities, thinned cortical bone, or a distortion of the hip bone called coxa vara. Common in Ashkenazi jewish ancestry. Glucocerebroside (a sphingolipid, aka glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (aka glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.
The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is one in 450.
Riley-Day syndrome and hereditary sensory and autonomic neuropathy type III (HSAN-III) — is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, inappropriate perception of heat, pain, and taste, as well as unstable blood pressure and gastrointestinal dysmotility. FD does not affect intelligence. Originally reported by Conrad Milton Riley and Richard Lawrence Day in 1949, FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies (HSAN). All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. Familial dysautonomia is the result of mutations in IKBKAP gene on chromosome 9, which encodes for the IKAP protein (IkB kinase complex associated protein).
The most distinctive clinical feature is absence of overflow tears with emotional crying after age 7 months. This symptom can manifest less dramatically as persistent bilateral eye irritation. There is also a high prevalence of breech presentation. Other symptoms include weak or absent suck and poor tone, poor suck and misdirected swallowing, and red blotching of skin.
Symptoms in an older child with familial dysautonomia might include:
Delayed speech and walking
Less perception in pain or temperature with nervous system.
Erratic or unstable blood pressure.
Red puffy hands
Dysautonomia crisis: constellation of symptoms response to physical and emotional stress; usually accompanied by vomiting, increased heart rate, increase in blood pressure, sweating, drooling, blotching of the skin and a negative change in personality.
Demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to communicate, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. No cure. Steroids and immunosuppressive drugs used to manage.
Pain areas: in the back or eyes
Pain circumstances: can occur in the back due to head nod or with eye movement
Tremor: can occur during precise movements, in the hands, or limbs
Muscular: cramping, difficulty walking, inability to rapidly change motions, involuntary movements, muscle paralysis, muscle rigidity, muscle weakness, problems with coordination, stiff muscles, clumsiness, muscle spasms, or overactive reflexes
Whole body: fatigue, dizziness, heat intolerance, poor balance, vertigo, or weakness
Urinary: excessive urination at night, leaking of urine, persistent urge to urinate, or urinary retention
Sensory: pins and needles, abnormality of taste, or uncomfortable tingling and burning
Visual: blurred vision, double vision, or vision loss
Sexual: erectile dysfunction or sexual dysfunction
Mood: anxiety or mood swings
Speech: slurred speech or impaired voice
Also common: acute episodes, constipation, depression, difficulty swallowing, difficulty thinking and understanding, headache, heavy legs, numbness, numbness of face, rapid involuntary eye movement, sleep deprivation, tongue numbness, or difficulty raising the foot
Hereditary autoinflammatory disorder caused by mutations in MEFV, a gene which encodes a 781-amino acid protein denoted pyrin. There are 7 types of attacks: 90% of patients have their first attacks before they are 18 years old. All develop over 2-4 hours and last anywhere from 6 hours to 4 days. Most attacks involve fever.
(Abdominal, joint, chest, scrotal, myalgia, erysipeloid, or fever without any of these symptoms).
Aka Armenian disease, familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann's syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease.
Systemic lupus erythematosus, often abbreviated as SLE, is a systemic autoimmune disease (or autoimmune connective tissue disease) in which the body's immune system mistakenly attacks healthy tissue. There are many kinds of lupus. The most common and severe type is systemic lupus erythematosus (SLE), which affects many internal organs in the body. SLE most often harms the heart, joints, skin, lungs, blood vessels, liver, kidneys, and nervous system. The course of the disease is unpredictable, with periods of illness (called flare-ups) alternating with remissions. No cure. Presence of autoantibodies that are directed against a person's own proteins; these are most commonly anti-nuclear antibodies, which are found in nearly all cases. These antibodies lead to inflammation. The disease is sex-related occurring nine times more often in women than in men, especially in women of child-bearing years (ages 15 to 35). It is also more common in those of African-American or Caribbean descent. Aka 3-Methylglutaconic aciduria type II. X-linked, dx in males. Cardinal characteristics of this multi-system disorder include: cardiomyopathy (dilated or hypertrophic, possibly with left ventricular noncompaction and/or endocardial fibroelastosis), neutropenia (chronic, cyclic, or intermittent), underdeveloped skeletal musculature and muscle weakness, growth delay, exercise intolerance, cardiolipin abnormalities, and 3-methylglutaconic aciduria. It can be associated with stillbirth. A majority of BTHS patients are hypotonic at birth, show signs of cardiomyopathy within the first few months of life, and experience a deceleration in growth in the first year, despite adequate nutrition. As patients progress into childhood, their height and weight lag significantly behind other children. While most patients express normal intelligence, a high proportion of BTHS patients also express mild or moderate learning disabilities. Physical activity is also hindered due to diminished muscular development and muscular hypotonia. Many of these disorders are resolved after puberty. Associated cause: abnormalities in cardiolipin.