fenil210/Med-Lamma huggingface dataset:
How to diagnose Adiposis dolorosa ?
Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of adiposis dolorosa are sporadic (not inherited) and no genes known to be associated with the condition have been identified. We are also not aware of laboratories currently offering research genetic testing for this condition. + GARD + Adiposis dolorosa
What are the treatments for Adiposis dolorosa ?
How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback. + GARD + Adiposis dolorosa
What is (are) Axial spondylometaphyseal dysplasia ?
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion. + GARD + Axial spondylometaphyseal dysplasia
What are the treatments for Axial spondylometaphyseal dysplasia ?
How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution.  The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy.  Further medical support resources can be found through the Little People of America, Inc. + GARD + Axial spondylometaphyseal dysplasia
What is (are) Thoracic outlet syndrome ?
Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression.  Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures. + GARD + Thoracic outlet syndrome
What are the symptoms of Thoracic outlet syndrome ?
What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Paresthesia 90% Abnormality of the ribs 50% Acrocyanosis 50% Arthralgia 50% Edema 50% Muscle weakness 50% Myalgia 50% EMG abnormality 7.5% Flexion contracture 7.5% Thrombophlebitis 7.5% Venous insufficiency 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Thoracic outlet syndrome
Is Thoracic outlet syndrome inherited ?
Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery.  Currently, the cause of cervical ribs is not known. In general, both genetic and environmental factors are thought to be involved. There have been animal studies investigating the role of HOX genes in causing extra ribs. Studies have also suggested environmental exposures, such as maternal exposure to foreign chemicals or stress during pregnancy could play a role. Further research in this area is needed. There have been rare case reports of families with multiple members with cervical rib. In these families autosomal dominant inheritance was suspected. Click here to learn more about autosomal dominant inheritance.   While we were unable to find recurrence risk data that might help inform your loved ones of their risk for cervical rib and thoracic outlet syndrome, we do suggest that your family members let their healthcare provider know of their family medical history. The Surgeon General's Family History Initiative's Family Health Portrait Tool, may be a helpful resource. You can use this tool to collect, record, and share your family health history information. http://www.hhs.gov/familyhistory/ + GARD + Thoracic outlet syndrome
How to diagnose Thoracic outlet syndrome ?
How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders have symptoms similar to those of TOS, including rotator cuff injuries, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. These conditions must be ruled out, which may also be difficult. + GARD + Thoracic outlet syndrome
What is (are) Chronic active Epstein-Barr virus infection ?
Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr virus (EBV). Most infections occur during childhood and do not cause any symptoms. EBV infection in adolescents or young adults can often result in infectious mononucleosis.  Rarely, people infected with EBV develop a life-threatening condition called chronic active EBV virus (CAEBV). Patients with CAEBV most often have fever, liver dysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia). Hematopoietic stem cell transplantation has shown promise in the treatment of CAEBV. + GARD + Chronic active Epstein-Barr virus infection
What are the symptoms of Chronic active Epstein-Barr virus infection ?
What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bronchiectasis - Fever - Pneumonia - Sinusitis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Chronic active Epstein-Barr virus infection
What are the symptoms of Optic atrophy 1 and deafness ?
What are the signs and symptoms of Optic atrophy 1 and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1 and deafness. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Optic atrophy 1 and deafness
What is (are) Potocki-Shaffer syndrome ?
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended. + GARD + Potocki-Shaffer syndrome
What are the symptoms of Potocki-Shaffer syndrome ?
What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present:  Enlarged parietal foramina  Multiple exostoses  Intellectual disability  Developmental delay  Failure to thrive  Autism  Behavioral problems  Deafness  Myopia (nearsightedness)  Nystagmus  Cataract  Strabismus  Aniridia  Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible)  Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn.  The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Potocki-Shaffer syndrome
What are the treatments for Potocki-Shaffer syndrome ?
How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region;  Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay.  Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant. + GARD + Potocki-Shaffer syndrome
What are the symptoms of Charcot-Marie-Tooth disease type 1B ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1B. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphoscoliosis 33% Peripheral demyelination 33% Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Myelin outfoldings - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - Tonic pupil - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Charcot-Marie-Tooth disease type 1B
What are the symptoms of Taurodontia absent teeth sparse hair ?
What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth sparse hair. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Reduced number of teeth 90% Taurodontia 90% Abnormality of the fingernails 50% Broad alveolar ridges 50% Hypoplastic toenails 50% Autosomal recessive inheritance - Oligodontia - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Taurodontia absent teeth sparse hair