Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
 Community
1
data
stringlengths
25
1.5k
Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff diseas...
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occ...
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some hav...
The NINDS conducts and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related disorders is expected to lead to the development of effective drug therapies.
All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. Between 40 to 45 percent of Americans diagnosed with ...
Medicare does cover skilled nursing care after a 3-day qualifying hospital stay. Skilled care is health care given when the person needs skilled nursing or rehabilitation staff to manage, observe, and evaluate his or her care. Care that can be given by non-professional staff isn't considered skilled care. Medicare does...
Patients with glomerular disease have significant amounts of protein in the urine, which may be referred to as "nephrotic range" if levels are very high. Red blood cells in the urine are a frequent finding as well, particularly in some forms of glomerular disease. Urinalysis provides information about kidney damage by ...
Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations. The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighborin...
The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients ...
What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulat...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia i...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Summary : Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. You cannot live without a liver that works. If your liver fails, your doctor may put you on a waiting list for a liver transplant. Doctors do liver transplants when other treatment cannot keep a...
What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l...
OHF virus may be detected in blood samples by virus isolation in cell culture or using molecular techniques such as PCR. Blood samples can also be tested for antibody presence using enzyme-linked immunosorbent seologic assay (ELISA).
These resources address the diagnosis or management of tetrasomy 18p: - Chromosome 18 Clinical Research Center, University of Texas Health Science Center at San Antonio - Genetic Testing Registry: Chromosome 18, tetrasomy 18p These resources from MedlinePlus offer information about the diagnosis and management of v...
What causes harlequin ichthyosis? Harlequin ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epiderm...
What are the signs and symptoms of Hairy nose tip? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l...
Most individuals with Lyme disease respond well to antibiotics and have full recovery. In a small percentage of individuals, symptoms may continue or recur, requiring additional antibiotic treatment. Varying degrees of permanent joint or nervous system damage may develop in individuals with late-stage Lyme disease.
Carbidopa is a drug that is usually given along with levodopa. It delays the body's conversion of levodopa into dopamine until the levodopa reaches the brain. This prevents or reduces some of the side effects that often accompany levodopa therapy. Carbidopa also reduces the amount of levodopa needed.
What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D...
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th...
Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the conditio...
These resources address the diagnosis or management of COG5-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 2i These resources from MedlinePlus offer information about the diagnosis and management ...
Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the abi...
Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on the legs, buttocks, or trunk; blisters on the skin; hives (urtica...
These resources address the diagnosis or management of CCHS: - Gene Review: Gene Review: Congenital Central Hypoventilation Syndrome - Genetic Testing Registry: Congenital central hypoventilation - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnos...
Summary : A volcano is a vent in the Earth's crust. Hot rock, steam, poisonous gases, and ash reach the Earth's surface when a volcano erupts. An eruption can also cause earthquakes, mudflows and flash floods, rock falls and landslides, acid rain, fires, and even tsunamis. Volcanic gas and ash can damage the lungs o...
As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. ...
These resources address the diagnosis or management of primary carnitine deficiency: - Baby's First Test - Gene Review: Gene Review: Systemic Primary Carnitine Deficiency - Genetic Testing Registry: Renal carnitine transport defect - The Linus Pauling Institute: L-Carnitine These resources from MedlinePlus offer ...
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). I...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the cancer formed in the urethra. - Whether the cancer has spread through the mucosa lining the urethra to nearby tissue, to lymph nodes, or ...
These resources address the diagnosis or management of Pearson marrow-pancreas syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Pearson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ...
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) Thes...
The NINDS supports research on neurological disorders such as Melkersson-Rosenthal syndrome. Much of this research is aimed at increasing knowledge of these disorders and finding ways to treat, prevent, and ultimately cure them.
This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one wor...
Eating, diet, and nutrition have not been shown to play a role in causing or preventing UI in children, though ensuring sufficient fluid intake throughout the day and avoiding caffeine intake may be helpful.
Cushing's syndrome is a hormonal disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. Sometimes called hypercortisolism, Cushing's syndrome is relatively rare and most commonly affects adults aged 20 to 50. People who are obese and have type 2 diabetes, along with poorly c...
Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to serious and permanent problems with balance and the way you walk. It usually occurs in middle-aged or elderly people. Symptoms are very different in each person, but may include per...
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you - Are between ages 25 and 65 - Are a woman - Are Asian - Have a family member who h...
Public education about botulism prevention is an ongoing activity. Information about safe canning is widely available for consumers. Persons in state health departments and at CDC are knowledgeable about botulism and available to consult with physicians 24 hours a day. If antitoxin is needed to treat a patient, it can ...
Topical treatments are those that are applied directly to the skin. Topical treatments for psoriasis include - salicylic acid, - steroid-based creams - calcipotriene-containing ointment - anthralin - coal-tar ointments and shampoos - and vitamin D analogues. salicylic acid, steroid-based creams calcipotriene-cont...
Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include the following: - private health insurance, which includes group and individual health insurance - government health insurance, such as Medicare, Medicaid, the Childrens Health Insurance P...
Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think yo...
Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell memb...
What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor t...
When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in ...
Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you a...
These resources address the diagnosis or management of glycogen storage disease type III: - Gene Review: Gene Review: Glycogen Storage Disease Type III - Genetic Testing Registry: Glycogen storage disease type III These resources from MedlinePlus offer information about the diagnosis and management of various healt...
These resources address the diagnosis or management of cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis These resources from MedlinePlus offer information about the diagnosis and managem...
Researchers are not sure how common Shwachman-Diamond syndrome is. Several hundred cases have been reported in scientific studies.
These resources address the diagnosis or management of Adams-Oliver syndrome: - Contact a Family - Gene Review: Gene Review: Adams-Oliver Syndrome - Genetic Testing Registry: Adams-Oliver syndrome - Genetic Testing Registry: Adams-Oliver syndrome 5 - Genetic Testing Registry: Adams-Oliver syndrome 6 These resour...
Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals.
The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.
Key Points - Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus. - Being exposed to x-rays can increase the risk of uterine sarcoma. - Signs of uterine sarcoma include abnormal bleeding. - Tests that ex...
How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnos...
A bursa is a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin. Bursitis occurs when a bursa becomes inflamed. People get bursitis by overusing a joint. It can also be caused by an injury. It usually occurs at the knee or elbow. Kneeling or leaning y...
How is Myhre syndrome inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for CMML depend on the following: - The number of white blood cells or platelets in the blood or bone marrow. - Whether the patient is anemic. - The amount of blasts in the...
Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis), often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. It may affect any part of the skeleton, but most common...
Mutations in the GM2A gene cause GM2-gangliosidosis, AB variant. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. Beta-hexos...
Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems incl...
ADVIRC is considered a rare disease. Its prevalence is unknown.
The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. The cervix has a small opening that expands during childbirth. It also allows menstrual blood to leave a woman's body. Your health care provider may perform a Pap test during your health checkup to look for changes to the cell...
Generally, physicians recommend surgery for children with hydromyelia if they have moderate or severe neurological deficits. Surgical treatment re-establishes the normal flow of spinal fluid.
How might chronic hiccups be treated? Treatment for chronic hiccups often varies based on the underlying cause. In many cases, medications can be prescribed to treat chronic hiccups. These may include: Tranquilizers such as chlorpromazine and haloperidol Muscle relaxants Anticonvulsant agents including phenytoin, valp...
How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receivin...
Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puert...
What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while ty...
Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the uri...
What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environm...
The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males.
These resources address the diagnosis or management of XMEN: - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - MedlinePlus Encyclopedia: T Cell Count These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery...
There are two kinds of stroke. The most common kind of stroke is called ischemic stroke. It accounts for approximately 80 percent of all strokes. An ischemic stroke is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind of stroke is called hemorrhagic stroke. A hemorrhagic stroke is ...
This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns.
Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed.
Signs of breast cancer include a lump or change in the breast. These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. - A change in the siz...
Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necess...
Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. I...
Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nai...
This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
These resources address the diagnosis or management of bladder cancer: - Genetic Testing Registry: Malignant tumor of urinary bladder - MedlinePlus Encyclopedia: Bladder Cancer These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ...
These resources address the diagnosis or management of osteogenesis imperfecta: - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta - Genetic Testing Registry: Osteogenesis imperfecta - Genetic Testing Registry: Osteogenesis imperfecta type 5 - Genetic Testing Registry: Osteogenesis imperfecta type...
Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the...
Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosa...
Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people.
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusa 1-inch-long opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. Organs that make up the GI tract are the mou...
Yes, you can prevent gum disease with proper dental hygiene and regular cleanings by your dentist or dental hygienist. Specifically, you should - brush your teeth twice a day (with a fluoride toothpaste). - floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a de...
Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. ...
Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name "vernal") and summer but often reoccur in the winter. Signs and symptoms usually begin ...
The prevalence of Alexander disease is unknown. About 500 cases have been reported since the disorder was first described in 1949.
Urinary retention is the inability to empty the bladder completely. Urinary retention can be acute or chronic. Acute urinary retention happens suddenly and lasts only a short time. People with acute urinary retention cannot urinate at all, even though they have a full bladder. Acute urinary retention, a potentially lif...
Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water. DI is different from diabetes mellitus (DM), which involves insulin problems ...
- Urinary tract infections (UTIs) usually occur when the body fails to remove bacteria rapidly from the urinary tract. - UTIs affect about 3 percent of children in the United States every year. - Most UTIs are not serious, but chronic kidney infections can cause permanent damage. - A UTI in a young child may be a si...
These resources address the diagnosis or management of Melnick-Needles syndrome: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Melnick-Needles syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: -...
Premenstrual syndrome, or PMS, is a group of symptoms that start one to two weeks before your period. Most women have at least some symptoms of PMS, and the symptoms go away after their periods start. For some women, the symptoms are severe enough to interfere with their lives. They have a type of PMS called premenstru...
These resources address the diagnosis or management of atelosteogenesis type 1: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes...