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Megaloblastic anemia due to dihydrofolate reductase deficiency
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Crohn’s disease
Crohn’s disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn’s disease may include intestinal blockage, fistulas, anal…
Hansen’s disease
Hansen’s disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes. After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds;…
Cutaneous mastocytosis
Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype.[1][2][3] Cutaneous…
Hereditary cerebral hemorrhage with amyloidosis
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th…
Aagenaes syndrome
Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[1][2] At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.[3] This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.[2]
Aberrant subclavian artery
Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria).[1][2] Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection.[2] When aberrant subclavian…
Peeling skin syndrome
Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PSS can…
Rapadilino syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3021 Definition A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and…
Achondrogenesis
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs.[1][2] There are at least three forms of achondrogenesis, type 1A, type 1B and type 2. Achondrogenesis…
Lysinuric protein intolerance
Lysinuric protein intolerance (LPI) is a genetic condition that is caused by the body’s inability to digest the amino acids lysine, arginine, and ornithine. These are some of the building blocks of protein. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting…
Weyers acrofacial dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 952 Definition A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely…
Unna-Thost palmoplantar keratoderma
Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there…
Acute hemorrhagic leukoencephalitis
Acute hemorrhagic leukoencephalitis (AHLE) is a very rare form of acute disseminated encephalomyelitis that frequently results in death. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin (the protective covering of the nerve fibers). It may also cause bleeding in the brain, leading to damage of the white…
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314404 Definition A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Epidemiology ADCA-DN has been reported in 24…
Adenomyosis
Adenomyosis is a condition that affects the uterus. In women with adenomyosis, the endometrial tissue (which typically lines the uterus) moves into the outer, muscular walls of the uterus. Some women may have no signs or symptoms of the condition. When present, features of the condition include heavy menstrual bleeding, painful menstrual periods, and pelvic…
Langer mesomelic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2632 Definition A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. Epidemiology The exact prevalence is unknown. More than 100 cases have…
GM1 gangliosidosis type 3
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although…
Adverse events of 5-alpha-reductase inhibitors
This page does not serve as an official recognition of post-finasteride syndrome by the NIH. Please see our Disclaimer for more details. This page was created to provide a list of resources where you can find more information about reported adverse events of 5-alpha reductase inhibitors, which is sometimes referred to as post-finasteride syndrome. Some…
Epidermolysis bullosa, lethal acantholytic
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 158687 Definition Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters. Epidemiology Prevalence is unknown but 3…
Corpus callosum agenesis
Corpus callosum agenesis is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or combined with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure…
Ectrodactyly polydactyly
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Androgen insensitivity syndrome
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a…
Multiple epiphyseal dysplasia 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166002 Definition Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but…
Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3199 Definition Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence…
Tricho-dento-osseous syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3352 Definition Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of…
Crandall syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 202 Definition Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad’s syndrome (see this term) that combines irregular…
Combined immunodeficiency due to partial RAG1 deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231154 Definition Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. Epidemiology…
Wagner syndrome
Wagner syndrome is a hereditary eye disorder that leads to progressive vision loss. It is characterized by changes to the thick, clear gel that fills the eyeball (the vitrous), in which it becomes thin and watery and appears empty.[1] The first signs and symptoms usually appear in childhood, but onset may be as early as age 2. Signs…
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita neurogenic type (AMCN) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to…
Gerstmann-Straussler-Scheinker disease
Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease. Prion diseases are a group of conditions that affect the nervous system. The main feature of GSS is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone), as well as different degrees of dementia. Signs and symptoms generally develop between…
Goldenhar disease
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal…
Sertoli-leydig cell tumors
Sertoli-Leydig cell tumors are a cancer that starts in the female ovaries. The cancer cells produce and release a male sex hormone which may cause the development of male physical characteristics (virilization), including facial hair and a deep voice.[1] This type of tumor is sometimes called arrhenoblastoma of the ovary or a stromal tumor.[1][2] Sertoli-Leydig cell tumors are rare tumors which account…
Jones syndrome
Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss.[1] The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing.[2] Jones syndrome…
Wolff-Parkinson-White syndrome
Wolff-Parkinson-White syndrome causes a problem with the rate or rhythm of the heartbeat (arrhythmia). People with the syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is paroxysmal…
Precocious puberty
Precocious puberty is when a person’s sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious puberty is not always…
Anthrax
Anthrax is an infection caused by the bacterium Bacillus anthracis. The severity of the condition, the associated signs and symptoms and the prognosis vary depending on which part of the body is involved (see below). Antibiotics can be used to treat all forms of anthrax. Antitoxin medications may also be used to treat some forms…
Familial tumoral calcinosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53715 Definition Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically,…
PEPCK 1 deficiency
PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids).[1][2] The symptoms described in the few cases reported in the medical literature suggest that…
Febrile Ulceronecrotic Mucha-Habermann disease
Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA).[1][2][3][4][5][6] PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and…
Apraxia
Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present…
Pseudohypoparathyroidism type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94090 Definition Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright’s hereditary…
Laband syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3473 Definition Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Epidemiology Forty-four patients have been reported…
Progressive external ophthalmoplegia, autosomal recessive 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254886 Definition A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory…
Pityriasis rotunda
Pityriasis rotunda is a rare skin disease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. Type 1 is seen mainly in East/Southeast Asian and South African individuals older than 60 years, and is often associated with internal disease or malignancy (cancer). Type…
Subvalvular aortic stenosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3092 Definition Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an…
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis is an autoimmune condition that causes pain and swelling in a child’s joints. When the immune system attacks the tissues of the joints, the resulting inflammation can cause joint damage, resulting in the pain and swelling characteristic of the disease. Some children who have juvenile idiopathic arthritis are affected by episodes where…
Say-Field-Coldwell syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3133 Definition Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. Visit the Orphanet disease…
Fournier gangrene
Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene.[1][2][3] Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult males. Most cases of…
Arts syndrome
Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked…
Glutaric acidemia type III
Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid.[1][2] No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free.[1][2][3][4] Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction.[3][4] Mutations in the C7ORF10…
Atkin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1193 Definition A rare syndrome characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same…
Protein S deficiency
Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be…
Hereditary geniospasm
Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with…
Tourette syndrome
Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics.[1][2] Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885.[2] A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small…
Rosette-Forming Glioneuronal Tumor
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251975 Definition Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette(or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs…
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70595 Definition Sensory ataxic neuropathydysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. Epidemiology The prevalence is unknown. Clinical description Other common features include progressive gait unsteadiness, absent…
Immunodeficiency with thymoma
Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray.[1][2][3] Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis.[2][3] While the cause of Good…
Troyer syndrome
Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia.[1][2] Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature.[2][3][1]…
Spinocerebellar ataxia 40
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 423275 Definition Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular…
Spondyloepimetaphyseal dysplasia, Aggrecan type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171866 Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Epidemiology To date, three cases have been described, all originating from…
Hepatic lipase deficiency
Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase…
Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).[1] Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the…
Hereditary hemorrhagic telangiectasia type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 774 Definition An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations. Epidemiology The prevalence is approximately 1/6,000 Clinical description The most common clinical signs of hereditary hemorrhagic telangiectasia (HHT) include recurrent…
Tetramelic monodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2564 Definition Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the…
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85182 Definition Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous…
Spondylometaphyseal dysplasia corner fracture type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93315 Definition Spondylometaphyseal dysplasia, ‘corner fracture’ type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated ‘corner fractures’ of long tubular bones and vertebral body abnormalities (mostly oval vertebral…
Pseudotrisomy 13 syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2166 Definition Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term). Epidemiology Incidence is unknown. Clinical description Dysmorphic features…
Epilepsy, benign occipital
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 25968 Definition Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment…
Trichorhinophalangeal syndrome type 3
Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.[1] TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).[2][3] The range and severity of symptoms may vary from case…
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