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What are the symptoms of Methylmalonic acidemia with homocystinuria ? | What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What is (are) Pulmonary vein stenosis ? | Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing o... |
What are the symptoms of Pulmonary vein stenosis ? | What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. 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 Medic... |
What are the symptoms of Cataract anterior polar dominant ? | What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What is (are) Multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are derived from immature hair follicles. They usually first develop during childho... |
What are the symptoms of Multiple familial trichoepithelioma ? | What are the signs and symptoms of Multiple familial trichoepithelioma? People with multiple familial trichoepithelioma typically develop large large numbers of smooth, round, firm skin-colored tumors called trichoepitheliomas, which arise from hair follicles. These benign (noncancerous) tumors may occasionally transfo... |
What causes Multiple familial trichoepithelioma ? | What causes multiple familial trichoepithelioma? Multiple familial trichoepithelioma is thought to be inherited in an autosomal dominant fashion with reduced penetrance. Autosomal dominant means that a single mutation in one copy of a gene is sufficient to cause the condition. Reduced penetrance means that not everyone... |
Is Multiple familial trichoepithelioma inherited ? | How is multiple familial trichoepithelioma inherited? Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell increases the risk that a person will develop the condition. However, a second, non-inherited mutation i... |
How to diagnose Multiple familial trichoepithelioma ? | How is multiple familial trichoepithelioma diagnosed? Diagnosis of multiple familial trichoepithelioma is made based upon the clinical symptoms in the patient, the patients family history, and the appearance of the trichoepithelioma cells under a microscope (histology). Multiple familial trichoepithelioma must be disti... |
What are the treatments for Multiple familial trichoepithelioma ? | How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results. A single trichoepithelioma may be treated with surgery. Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas. Imiquimod cream has also been... |
What is (are) Oculopharyngeal muscular dystrophy ? | Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. There are two types of OPMD, which are... |
What are the symptoms of Oculopharyngeal muscular dystrophy ? | What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70. The most common symptoms of O... |
What causes Oculopharyngeal muscular dystrophy ? | What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules cal... |
Is Oculopharyngeal muscular dystrophy inherited ? | How is oculopharyngeal muscular dystrophy inherited? |
How to diagnose Oculopharyngeal muscular dystrophy ? | Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting test... |
What are the treatments for Oculopharyngeal muscular dystrophy ? | How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surger... |
What are the symptoms of Mental retardation X-linked syndromic 7 ? | What are the signs and symptoms of Mental retardation X-linked syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What is (are) Autoimmune polyglandular syndrome type 1 ? | Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, a... |
What are the symptoms of Autoimmune polyglandular syndrome type 1 ? | What are the signs and symptoms of Autoimmune polyglandular syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune polyglandular syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
What is (are) Split hand foot malformation ? | Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, ... |
What are the symptoms of Split hand foot malformation ? | What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What causes Split hand foot malformation ? | What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the con... |
What are the symptoms of Preaxial polydactyly type 1 ? | What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Dominant optic atrophy ? | Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal bl... |
Is Dominant optic atrophy inherited ? | How is dominant optic atrophy inherited? Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene f... |
What are the treatments for Dominant optic atrophy ? | How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-visi... |
What is (are) Waardenburg syndrome ? | Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes,... |
What are the symptoms of Waardenburg syndrome ? | What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg 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 Dic... |
How to diagnose Waardenburg syndrome ? | How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major ... |
What is (are) Glycogen storage disease type 6 ? | Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly. Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly whe... |
What are the symptoms of Glycogen storage disease type 6 ? | What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Neurofibromatosis ? | Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnorma... |
Is Neurofibromatosis inherited ? | Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may resul... |
What are the symptoms of Bone dysplasia lethal Holmgren type ? | What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Chondrodysplasia punctata 1, X-linked recessive ? | Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear be... |
What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ? | What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. If the information is available, the table below includes how often the symptom is seen in people with t... |
What are the symptoms of Pseudoainhum ? | What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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 ... |
What are the symptoms of ADULT syndrome ? | What are the signs and symptoms of ADULT syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADULT 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... |
What is (are) Lymphocytic infiltrate of Jessner ? | Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. The ... |
What are the symptoms of Lymphocytic infiltrate of Jessner ? | What are the signs and symptoms of Lymphocytic infiltrate of Jessner? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic infiltrate of Jessner. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
What are the treatments for Lymphocytic infiltrate of Jessner ? | How might lymphocytic infiltrate of Jessner be treated? Lymphocytic infiltrate of Jessner may require no treatment (since it can resolve spontaneously), but some patients benefit from cosmetic camouflage, photoprotection, excision of small lesions, topical steroids, intralesional steroids, oral hydroxychloroquine, syst... |
What are the symptoms of Cataract and cardiomyopathy ? | What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Juvenile myelomonocytic leukemia ? | What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What are the symptoms of Trigger thumb ? | What are the signs and symptoms of Trigger thumb? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigger thumb. 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 loo... |
What are the symptoms of Giant platelet syndrome ? | What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet 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 Medic... |
What is (are) Tranebjaerg Svejgaard syndrome ? | Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on ... |
What are the symptoms of Tranebjaerg Svejgaard syndrome ? | What are the signs and symptoms of Tranebjaerg Svejgaard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tranebjaerg Svejgaard 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 Med... |
What are the symptoms of Multiple epiphyseal dysplasia 4 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Antley Bixler syndrome ? | Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protrudi... |
What are the symptoms of Antley Bixler syndrome ? | What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler 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... |
What is (are) TEMPI syndrome ? | TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lu... |
What is (are) Mastocytic enterocolitis ? | Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneou... |
What are the symptoms of Mastocytic enterocolitis ? | What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although... |
How to diagnose Mastocytic enterocolitis ? | How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsie... |
What are the treatments for Mastocytic enterocolitis ? | How might mastocytic enterocolitis be treated? There is very limited information in the medical literature about the treatment of mastocytic enterocolitis. Options that have been suggested include antihistamines and/or medications that alter mast cell mediator release and function, or mast cell stabilizers. Symptoms of... |
What is (are) Mitochondrial genetic disorders ? | Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes,... |
What are the symptoms of Mitochondrial genetic disorders ? | What are the signs and symptoms of mitochondrial genetic disorders? People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes,... |
What causes Mitochondrial genetic disorders ? | What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (k... |
Is Mitochondrial genetic disorders inherited ? | Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. Only egg cells (not... |
How to diagnose Mitochondrial genetic disorders ? | How are mitochondrial genetic disorders diagnosed? Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. In some cases, th... |
What are the treatments for Mitochondrial genetic disorders ? | How might mitochondrial genetic disorders be treated? Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. For example... |
What is (are) Mantle cell lymphoma ? | Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood c... |
What are the symptoms of Mantle cell lymphoma ? | What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list ... |
What causes Mantle cell lymphoma ? | What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. Some causes of non... |
How to diagnose Mantle cell lymphoma ? | How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be... |
What are the treatments for Mantle cell lymphoma ? | How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication. |
What is (are) Lung adenocarcinoma ? | Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people ca... |
What are the symptoms of Lung adenocarcinoma ? | What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. 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 Dicti... |
What are the symptoms of Ectodermal dysplasia skin fragility syndrome ? | What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this co... |
What are the symptoms of Sillence syndrome ? | What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence 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 Dictionar... |
What is (are) Lymphocytic colitis ? | Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. In lymphocytic colitis, specifically, the tissues and lin... |
What are the symptoms of Cataract congenital Volkmann type ? | What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
What is (are) Hypophosphatasia ? | Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones;... |
What are the symptoms of Hypophosphatasia ? | What are the signs and symptoms of Hypophosphatasia? The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abno... |
What causes Hypophosphatasia ? | What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzy... |
Is Hypophosphatasia inherited ? | How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the... |
What are the treatments for Hypophosphatasia ? | How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infan... |
What is (are) Femoral facial syndrome ? | Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. Symptoms ... |
What are the symptoms of Femoral facial syndrome ? | What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial 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 Medic... |
Is Femoral facial syndrome inherited ? | Is femoral facial syndrome inherited? The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family. Occurrence in more than one family member has been reported i... |
What is (are) Non 24 hour sleep wake disorder ? | Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impair... |
What are the symptoms of Non 24 hour sleep wake disorder ? | What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What are the symptoms of Marinesco-Sjogren syndrome ? | What are the signs and symptoms of Marinesco-Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marinesco-Sjogren 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... |
What are the symptoms of Meckel syndrome type 3 ? | What are the signs and symptoms of Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 3. 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... |
What is (are) Mucopolysaccharidosis type IVA ? | Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progress... |
What are the symptoms of Mucopolysaccharidosis type IVA ? | What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
What is (are) Olmsted syndrome ? | Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white... |
What are the symptoms of Olmsted syndrome ? | What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted 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 ... |
What are the symptoms of Nystagmus, congenital motor, autosomal recessive ? | What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with... |
What is (are) Wildervanck syndrome ? | Wildervanck syndrome is a condition that occurs almost exclusively in females and affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder that is present from birth), and hearing loss. ... |
What are the symptoms of Wildervanck syndrome ? | What are the signs and symptoms of Wildervanck syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wildervanck 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 Dic... |
What causes Wildervanck syndrome ? | What causes Wildervanck syndrome? The exact cause of Wildervanck syndrome is not known. It is suspected to be a polygenic condition, meaning that many genetic factors may be involved. |
Is Wildervanck syndrome inherited ? | How is Wildervanck syndrome inherited? Wildervanck syndrome does not have a clear pattern of inheritance. In most cases, only one person in a family is affected. These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome. Because this syndrome occurs mostly in females, it ... |
What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ? | What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. If the information is available, the tab... |
What are the symptoms of Akesson syndrome ? | What are the signs and symptoms of Akesson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson 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 ... |
What is (are) Intestinal pseudo-obstruction ? | Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrient... |
What are the symptoms of Hermansky Pudlak syndrome 2 ? | What are the signs and symptoms of Hermansky Pudlak syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky Pudlak syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Stuve-Wiedemann syndrome ? | Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temper... |
What are the symptoms of Stuve-Wiedemann syndrome ? | What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann 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 Med... |
What is (are) Pearson syndrome ? | Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kea... |
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