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What are the symptoms of Familial hypocalciuric hypercalcemia type 1 ? | What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Familial hypocalciuric hypercalcemia type 1 |
What are the symptoms of HurlerScheie syndrome ? | What are the signs and symptoms of HurlerScheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for HurlerScheie 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... | HurlerScheie syndrome |
What is (are) Pyruvate dehydrogenase deficiency ? | Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, interm... | Pyruvate dehydrogenase deficiency |
What are the symptoms of Pyruvate dehydrogenase deficiency ? | What are the signs and symptoms of Pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency can have a significant effect on fetal development, which may become apparent during late pregnancy with poor fetal weight gain and decreasing levels of estriol in the urine of the mother during pregnancy. Deli... | Pyruvate dehydrogenase deficiency |
What causes Pyruvate dehydrogenase deficiency ? | What causes pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency is usually caused by a deficiency of one or more enzymes or cofactors (such as thiamine) that are needed for an important chemical reaction in the cells of the body. These enzymes or cofactors are part of the pyruvate dehydrogenase c... | Pyruvate dehydrogenase deficiency |
Is Pyruvate dehydrogenase deficiency inherited ? | How is pyruvate dehydrogenase deficiency inherited? Pyruvate dehydrogenase deficiency is most commonly caused by mutations in the E1 alpha gene, which is located on the X chromosome (one of the sex chromosomes) and is typically inherited in an X-linked dominant manner. Dominant inheritance occurs when an abnormal gene ... | Pyruvate dehydrogenase deficiency |
How to diagnose Pyruvate dehydrogenase deficiency ? | Is genetic testing available for pyruvate dehydrogenase deficiency? Genetic testing is available for pyruvate dehydrogenase deficiency. GeneTests lists the names of laboratories that are performing genetic testing for pyruvate dehydrogenase deficiency. To view the contact information for the clinical laboratories condu... | Pyruvate dehydrogenase deficiency |
What are the treatments for Pyruvate dehydrogenase deficiency ? | How might pyruvate dehydrogenase deficiency be treated? Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease, but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the con... | Pyruvate dehydrogenase deficiency |
What is (are) Craniometaphyseal dysplasia, autosomal dominant ? | Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed... | Craniometaphyseal dysplasia, autosomal dominant |
What are the symptoms of Craniometaphyseal dysplasia, autosomal dominant ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal dominant? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertel... | Craniometaphyseal dysplasia, autosomal dominant |
What causes Craniometaphyseal dysplasia, autosomal dominant ? | What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate b... | Craniometaphyseal dysplasia, autosomal dominant |
Is Craniometaphyseal dysplasia, autosomal dominant inherited ? | How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia t... | Craniometaphyseal dysplasia, autosomal dominant |
What are the treatments for Craniometaphyseal dysplasia, autosomal dominant ? | How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrow... | Craniometaphyseal dysplasia, autosomal dominant |
What is (are) Mulibrey Nanism ? | Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive... | Mulibrey Nanism |
What are the symptoms of Mulibrey Nanism ? | What are the signs and symptoms of Mulibrey Nanism? Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face. Yellow disco... | Mulibrey Nanism |
How to diagnose Mulibrey Nanism ? | Is genetic testing available for mulibrey nanism? Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. To view the contact information for the clinical laboratori... | Mulibrey Nanism |
What is (are) Ainhum ? | Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition ... | Ainhum |
What are the symptoms of Ainhum ? | What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. 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 defin... | Ainhum |
What is (are) Desmoplastic small round cell tumor ? | Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. The most common symptoms include abdominal pain, ab... | Desmoplastic small round cell tumor |
What is (are) Kallmann syndrome ? | Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sex... | Kallmann syndrome |
What are the symptoms of Kallmann syndrome ? | What are the signs and symptoms of Kallmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann 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... | Kallmann syndrome |
Is Kallmann syndrome inherited ? | How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-... | Kallmann syndrome |
What are the symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome ? | What are the signs and symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Skin fragility-woolly hair-palmoplantar keratoderma syndrome. If the information is available, the table below includes how often the sympto... | Skin fragility-woolly hair-palmoplantar keratoderma syndrome |
What is (are) Congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia (CDH) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity. It can range in severity from a thinned area in the diaphragm to its complete absence. CDH may allow the stomach and intestine... | Congenital diaphragmatic hernia |
What are the symptoms of Congenital diaphragmatic hernia ? | What are the signs and symptoms of Congenital diaphragmatic hernia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital diaphragmatic hernia. 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... | Congenital diaphragmatic hernia |
What causes Congenital diaphragmatic hernia ? | What causes congenital diaphragmatic hernia? Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their di... | Congenital diaphragmatic hernia |
What is (are) Pilomatrixoma ? | Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Al... | Pilomatrixoma |
What are the symptoms of Pilomatrixoma ? | What are the signs and symptoms of Pilomatrixoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilomatrixoma. 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... | Pilomatrixoma |
What causes Pilomatrixoma ? | What causes a pilomatrixoma? The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tum... | Pilomatrixoma |
Is Pilomatrixoma inherited ? | Is a pilomatrixoma inherited? Most isolated (without other signs and symptoms) pilomatrixomas are not inherited. However, more than one family member can rarely be affected, which suggests there may be a hereditary component in some cases. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Ga... | Pilomatrixoma |
How to diagnose Pilomatrixoma ? | How is a pilomatrixoma diagnosed? A diagnosis of pilomatrixoma is usually suspected on physical examination. Specialized tests may be ordered to confirm the diagnosis and rule out other conditions that cause similar features. These tests may include an ultrasound, an X-ray, and/or a small biopsy of the tumor. | Pilomatrixoma |
What are the treatments for Pilomatrixoma ? | How might a pilomatrixoma be treated? Pilomatrixomas are usually surgically removed (excised). In most cases, the tumors do not grow back (recur) after surgery, unless the removal was incomplete. | Pilomatrixoma |
What are the symptoms of Leber congenital amaurosis 15 ? | What are the signs and symptoms of Leber congenital amaurosis 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 15. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Leber congenital amaurosis 15 |
What are the symptoms of Hereditary vascular retinopathy ? | What are the signs and symptoms of Hereditary vascular retinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary vascular retinopathy. 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... | Hereditary vascular retinopathy |
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 ... | Tranebjaerg Svejgaard syndrome |
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... | Tranebjaerg Svejgaard syndrome |
What causes Ewing's family of tumors ? | What causes Askins tumor? In 80% to 90% of Askins tumors, a part of chromosome 11 and chromosome 22 are translocated. 'Translocation' means that the chromosomes have exchanged material. This exchange of material interrupts the cell's ability to grow and divide normally. In general, cancers are caused when the genes tha... | Ewing's family of tumors |
What is (are) Congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"... | Congenital contractural arachnodactyly |
What are the symptoms of Congenital contractural arachnodactyly ? | What are the signs and symptoms of Congenital contractural arachnodactyly? Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm sp... | Congenital contractural arachnodactyly |
What causes Congenital contractural arachnodactyly ? | What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils ... | Congenital contractural arachnodactyly |
Is Congenital contractural arachnodactyly inherited ? | How is congenital contractural arachnodactyly 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. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new m... | Congenital contractural arachnodactyly |
What are the treatments for Congenital contractural arachnodactyly ? | How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, brac... | Congenital contractural arachnodactyly |
What is (are) Geographic tongue ? | Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition ... | Geographic tongue |
What are the symptoms of Geographic tongue ? | What are the signs and symptoms of Geographic tongue? The lesions seen in geographic tongue resemble those of psoriasis. Most patients do not experience symptoms. It has been estimated that about 5% of individuals who have geographic tongue complain of sensitivity to hot or spicy foods when the their lesions are active... | Geographic tongue |
What causes Geographic tongue ? | What causes geographic tongue? Is it genetic? The exact cause of geographic tongue has not been identified. However, because the condition may be present in several members of the same family, genetics may increase a person's chances of developing the condition. A study by Guimares (2007) showed that a specific variant... | Geographic tongue |
What are the treatments for Geographic tongue ? | What treatment is available for geographic tongue? Because geographic tongue is a benign (harmless) condition and does not typically cause symptoms, treatment is usually unnecessary. Even those patients who experience sensitivity to hot or spicy foods, generally do not require treatment. With severe symptoms, topical c... | Geographic tongue |
What is (are) Synovial Chondromatosis ? | Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of r... | Synovial Chondromatosis |
What causes Synovial Chondromatosis ? | What causes synovial chondromatosis? The exact underlying cause of synovial chondromatosis is unknown. Some research suggests that trauma may play a role in its development because the condition primarily occurs in weight-bearing joints. Infection has also been considered as a contributing factor. The condition is not ... | Synovial Chondromatosis |
What are the symptoms of Mucopolysaccharidosis type VI ? | What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Mucopolysaccharidosis type VI |
What is (are) Congenital laryngeal palsy ? | Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It represents 15%-20% of all cases of congenital anomalies of the larynx. It may be bilateral or unilateral. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). In some cases, paralysis may be secondary to the im... | Congenital laryngeal palsy |
What are the symptoms of Congenital laryngeal palsy ? | What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis Medscape Reference - Congenital Malformat... | Congenital laryngeal palsy |
What causes Congenital laryngeal palsy ? | What is the cause of congenital laryngeal paralysis? The cause is often unknown (idiopathic). Congenital bilateral vocal cord paralysis may occur as a result of the immaturity of the nerve or muscle (neuromuscular) or as a result of central nervous system problems, such as Arnold-Chiari syndrome, cerebral palsy, hydroc... | Congenital laryngeal palsy |
How to diagnose Congenital laryngeal palsy ? | How is congenital laryngeal paralysis diagnosed? The following online resources provide information on the diagnosis of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis American Speech-Language-Hearing Association (ASHA) - Vocal Cord Paralysis Medsca... | Congenital laryngeal palsy |
What are the treatments for Congenital laryngeal palsy ? | What treatment is available for congenital laryngeal paralysis? The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. During this time, a... | Congenital laryngeal palsy |
What is (are) Alopecia totalis ? | Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks... | Alopecia totalis |
What are the symptoms of Alopecia totalis ? | What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. 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 ... | Alopecia totalis |
What are the symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome ? | What are the signs and symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant compelling helio ophthalmic outburst syndrome. If the information is available, the table below includes how often th... | Autosomal dominant compelling helio ophthalmic outburst syndrome |
What is (are) Opitz G/BBB syndrome ? | Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the unde... | Opitz G/BBB syndrome |
What are the symptoms of Opitz G/BBB syndrome ? | What are the signs and symptoms of Opitz G/BBB syndrome? Opitz G/BBB syndrome mainly affects structures along the midline of the body. The most common features of the condition are wide-spaced eyes (hypertelorism); defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (dy... | Opitz G/BBB syndrome |
What causes Opitz G/BBB syndrome ? | What causes Opitz G/BBB syndrome? The X-linked form of Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a specific protein called midline-1. This protein helps regulate the function of microtubules, which are rigid, hollow fibers that make up the cell's struct... | Opitz G/BBB syndrome |
Is Opitz G/BBB syndrome inherited ? | How is Opitz G/BBB syndrome inherited? Opitz G/BBB syndrome often has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes (the other sex chromosome is the Y chromosome). In most cases, males e... | Opitz G/BBB syndrome |
How to diagnose Opitz G/BBB syndrome ? | How is Opitz G/BBB syndrome diagnosed? The diagnosis of Opitz G/BBB syndrome is usually based on clinical findings. In order to differentiate the X-linked form from 22q11.2 deletion syndrome (the autosomal dominant form), the pattern of inheritance within the family may be assessed. Molecular genetic testing for mutati... | Opitz G/BBB syndrome |
What are the treatments for Opitz G/BBB syndrome ? | How might Opitz G/BBB syndrome be treated? Because of the wide range of signs and symptoms that may be present in affected individuals, management of Opitz G/BBB syndrome typically incorporates a multidisciplinary team consisting of various specialists. Treatment for the condition may include surgery for significant ab... | Opitz G/BBB syndrome |
What is (are) Split hand/foot malformation X-linked ? | 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, ... | Split hand/foot malformation X-linked |
What are the symptoms of Split hand/foot malformation X-linked ? | What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Split hand/foot malformation X-linked |
What is (are) Potassium aggravated myotonia ? | Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. Potassium aggravated my... | Potassium aggravated myotonia |
What are the symptoms of Potassium aggravated myotonia ? | What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Potassium aggravated myotonia |
What are the symptoms of Papillon Lefevre syndrome ? | What are the signs and symptoms of Papillon Lefevre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillon Lefevre 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 M... | Papillon Lefevre syndrome |
What are the symptoms of Aplasia cutis congenita of limbs recessive ? | What are the signs and symptoms of Aplasia cutis congenita of limbs recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita of limbs recessive. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Aplasia cutis congenita of limbs recessive |
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... | Giant platelet syndrome |
What is (are) Multiple pterygium syndrome lethal type ? | Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. Fetus... | Multiple pterygium syndrome lethal type |
What are the symptoms of Multiple pterygium syndrome lethal type ? | What are the signs and symptoms of Multiple pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Multiple pterygium syndrome lethal type |
What is (are) Glass-Chapman-Hockley syndrome ? | The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandm... | Glass-Chapman-Hockley syndrome |
What are the symptoms of Glass-Chapman-Hockley syndrome ? | What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing t... | Glass-Chapman-Hockley syndrome |
Is Glass-Chapman-Hockley syndrome inherited ? | How is Glass-Chapman-Hockley syndrome inherited? Based on the only family that has been reported in the medical literature, to date, the syndrome is believed to be inherited in an autosomal dominant manner. | Glass-Chapman-Hockley syndrome |
What are the treatments for Glass-Chapman-Hockley syndrome ? | How might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months... | Glass-Chapman-Hockley syndrome |
What are the symptoms of Limb deficiencies distal with micrognathia ? | What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Limb deficiencies distal with micrognathia |
What is (are) Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of the Pallist... | Pallister-Killian mosaic syndrome |
What are the symptoms of Pallister-Killian mosaic syndrome ? | What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Pallister-Killian mosaic syndrome |
What is (are) COACH syndrome ? | COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus). This c... | COACH syndrome |
What are the symptoms of COACH syndrome ? | What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH 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... | COACH syndrome |
How to diagnose COACH syndrome ? | How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malfor... | COACH syndrome |
What is (are) Hypotrichosis simplex ? | Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the s... | Hypotrichosis simplex |
What are the symptoms of Hypotrichosis simplex ? | What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. 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... | Hypotrichosis simplex |
What are the treatments for Hypotrichosis simplex ? | Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may... | Hypotrichosis simplex |
What are the symptoms of Loose anagen hair syndrome ? | What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair 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... | Loose anagen hair syndrome |
What are the symptoms of Cleft hand absent tibia ? | What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. 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... | Cleft hand absent tibia |
What is (are) Chronic hiccups ? | Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes. However, chronic hiccups last over two days and in rare ... | Chronic hiccups |
What are the symptoms of Chronic hiccups ? | What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. 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... | Chronic hiccups |
What causes Chronic hiccups ? | What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. Chronic hiccups can also b... | Chronic hiccups |
Is Chronic hiccups inherited ? | Are chronic hiccups inherited? Chronic hiccups are not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. | Chronic hiccups |
How to diagnose Chronic hiccups ? | How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. For m... | Chronic hiccups |
What are the treatments for Chronic hiccups ? | 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... | Chronic hiccups |
What is (are) Joubert syndrome ? | Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This ... | Joubert syndrome |
What are the symptoms of Joubert syndrome ? | What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert 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 ... | Joubert syndrome |
What causes Joubert syndrome ? | What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role ... | Joubert syndrome |
Is Joubert syndrome inherited ? | How is Joubert syndrome inherited? Joubert syndrome is predominantly 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 in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as... | Joubert syndrome |
What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? | Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids. People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near t... | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 |
What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? | What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1. If the information is available, the table below includes how often ... | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 |
Is Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 inherited ? | If my daughter inherits BPES from me, will she definitely have the same type as me, or could she have the other type? More than 130 mutations (changes) in the FOXL2 gene have been found to cause BPES. It has been reported that mutations that lead to a significantly shortened FOXL2 protein often cause BPES type I (chara... | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 |
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