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Growth hormone deficiency
Growth hormone deficiency (GHD) is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may also be diagnosed in adults.[1] Too little growth hormone can cause short stature in children, and changes in muscle…
Bardet-Biedl syndrome 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 110 Definition Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. Clinical description This disorder is characterized by a combination of clinical signs:…
Orotic aciduria type 1
Orotic aciduria type I (OA1), also known as hereditary orotic aciduria, is a rare condition characterized by elevated levels of orotic acid in the urine.[1] It typically becomes apparent in the first months of life with megaloblastic anemia, as well as delays in physical and intellectual development.[1][2] OA1 is caused by changes (mutations) in the UMPS gene and inheritance is…
Bietti crystalline corneoretinal dystrophy
Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti…
Hypomyelination and congenital cataract
Hypomyelination and congenital cataract is a very rare disease characterized by cloudy coverings of the eye that are present at birth (congenital cataracts) and neurologic impairment that becomes apparent after the first year of life. The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk. Signs…
Microhydranencephaly
Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown….
Epilepsy occipital calcifications
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1459 Definition Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Epidemiology CEC was first described in 1992 and…
Hypertrichosis universalis
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Bjornstad syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 123 Definition Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Epidemiology Less than fifty cases have been reported so far. Clinical description The hearing loss usually becomes evident very early in…
Blastomycosis
Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin,…
Idiopathic inflammatory myopathy
Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the…
Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome (BOS) affects the skin and bones causing skin lesions and spots on the bones. The skin lesions are due to abnormalities in different types of connective tissue. The bone spots are painless areas of increased bone density seen on X-ray. People with BOS may have only skin, only bone or both skin and bone…
Preaxial polydactyly type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93337 Definition Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits…
Kozlowski-Krajewska syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3082 Definition Intellectual disabilitypolydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures,…
Brucellosis
Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals.[1][2] Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial…
Iridogoniodysgenesis type 2
Iridogoniodysgenesis type 2 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe ‘brown’ irides as…
Pilocytic astrocytoma
Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea,…
Chondrocalcinosis 2
Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time).[1][2] Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well…
Keratoconus
Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom…
Klebsiella infection
Klebsiella is a type of bacteria commonly found in nature. In humans, the bacteria are often present in parts of the digestive tract where they do not generally cause problems. In the United States, Klebsiella pneumoniae and Klebsiella oxytoca are the two strains responsible for most human illnesses. Many Klebsiella infections are acquired in the…
Glucose-galactose malabsorption
Glucose-galactose malabsorption (GGM) is a genetic condition in which the sugars glucose and galactose cannot be properly absorbed by the body. Infants with GGM develop severe diarrhea resulting in life-threatening dehydration, acidosis, and weight loss in the first few weeks of life. GGM is caused by mutations in the SLC5A1 gene and is inherited in an autosomal recessive manner. This gene normally makes a…
Renier Gabreels Jasper syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93975 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome…
Cardiomyopathy cataract hip spine disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1345 Definition Cardiomyopathy cataract hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly….
Severe achondroplasia with developmental delay and acanthosis nigricans
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85165 Definition Severe achondroplasiadevelopmental delayacanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures…
Levic Stefanovic Nikolic syndrome
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Cerulean cataract
Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood.[1] They are usually bilateral and progressive.[2] Infants can be asymptomatic, but may also be visually impaired from birth…
Lipedema
Lipedema is characterized by increased enlargement of both legs due to deposits of fat beneath the skin. Symptoms of lipedema usually occur in women and begin around times of hormonal change, such as puberty or menopause. Symptoms may include enlargement of the upper legs, arms, pain, and easy bruising. The cause of lipedema is unknown. Many…
Shigellosis
Shigellosis is a disease caused by a group of bacteria called Shigella. Shigella is very contagious. Shigella germs are present in the stools of infected individuals for up to two weeks after symptoms have resolved. Individuals may be exposed through direct contact with an infected person or through contaminated food, water (both drinking and recreational water),…
Dysequilibrium syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1766 Definition Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. Epidemiology To date, more than 50 individuals have been reported in the…
Spastic paraplegia 25
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101005 Definition Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs…
Manitoba oculotrichoanal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2717 Definition Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad…
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes (mutations) in the LRSAM1 gene. The onset of symptoms commonly occurs between 20 and 40 years of age and the disease seems to be relatively mild and benign. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation…
Childhood acute lymphoblastic leukemia
Childhood acute lymphoblastic leukemia (ALL) is a type of cancer of the blood and bone marrow, and the most common type of cancer in children. In children with this condition, too many stem cells made by the bone marrow become lymphoblasts, B lymphocytes, or T lymphocytes. These cells do not function normally and have trouble…
Thoracic dysplasia hydrocephalus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1861 Definition Thoracic dysplasiahydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay….
Mesomelic dysplasia Savarirayan type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85170 Definition Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening…
Chromosome 10p deletion
Chromosome 10p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include…
Metatarsus adductus
Metatarsus adductus is a common foot deformity where the bones of the front of the foot bend or turn in toward the body. It may affect one or both feet. MedlinePlus provides an online image of metatarsus adductus. Newborns with metatarsus adductus may also have a problem called developmental dysplasia of the hip. This can…
Chromosome 13q deletion
Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…
Vitiligo
Vitiligo is a relatively common pigmentation disorder in which the skin’s pigment-making cells (melanocytes) are lost or destroyed. As a result, well-defined white patches appear on the skin. Patches may occur on one section or all over the body and may join together (coalesce).[1] Some people also have loss of pigment in patches of hair…
Schisis association
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 63862 Definition Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These…
Ring chromosome 19
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Xeroderma pigmentosum
Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and swelling. Some people with XP…
Monoclonal mast cell activation syndrome
Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria…
Olmsted syndrome
Olmsted syndrome, also known as mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques, is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include…
Myoglobinuria recurrent
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99845 Definition Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. Epidemiology The exact prevalence remains unknown. Clinical description In…
Neu Laxova syndrome
Neu Laxova syndrome (NLS) is a genetic disorder affecting many parts of the body. Babies born with NLS usually grow poorly during pregnancy (intrauterine growth restriction). At birth, they may be small (low birth weight and short in length) and their facial features are usually different and distinct. The babies may have a small head…
Variant Creutzfeldt-Jakob disease
Variant Creutzfeldt-Jakob disease (vCJD) is a type of Creutzfeldt-Jakob disease (CJD) characterized by early psychiatric symptoms and cognitive decline. All forms of CJD belong to a rare family of progressive neurodegenerative disorders that affect both humans and animals, called prion diseases. The term “prion” refers to abnormal proteins within the brain, called prion proteins. vCJD, described…
Cluttering
Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits.[1][2] The disorder seems to result from disorganized speech planning, talking…
Oligodendroglioma
Oligodendrogliomas are brain tumors arising from oligodendrocytes, a type of cell that makes up the supportive (glial) tissue of the brain. They can be low-grade (grade II) or high-grade (grade III, also called anaplastic). While they can be found anywhere within the cerebral hemisphere, they are most common in the frontal and temporal lobes. They…
Cogan’s syndrome
Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo. Other symptoms may include joint or muscle pain or inflammation of the blood vessels.[1] The exact cause of Cogan syndrome is not well-understood. It is thought that the syndrome…
Otodental dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2791 Definition Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. Epidemiology Prevalence of this disorder is not known. It has been…
Cone-rod dystrophy amelogenesis imperfecta
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1873 Definition Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term). Epidemiology It has been described in only one family with 29…
Pancreatitis, pediatric
Pediatric pancreatitis is a condition that causes the pancreas to become inflamed in children. Acute refers to conditions that occur suddenly and have a short course. Symptoms of acute pediatric pancreatitis may include stomach pain, persistent vomiting, and fever.[1] Common causes include blunt abdominal injury, structural defects (e.g., pancreas divisum), medications, viruses, and gallstones.[2][1] Acute…
Microvillus inclusion disease
Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail to grow and develop…
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