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Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited disease that affects the brain and muscles. People with this disease may begin showing symptoms from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, recurrent seizures (epilepsy), problems with speech, and involuntary movements. People with this disease may…
Maculopapular cutaneous mastocytosis
Maculopapular cutaneous mastocytosis (also known as urticaria pigmentosa) is a common form of cutaneous mastocytosis characterized by brown patches or freckles on the skin that result from an abnormal collection of mast cells.[1][2] The skin may be very itchy and rubbing may lead to hive-like bumps or fluid-filled blisters.[3] The condition is most common in…
Neuropathy, hereditary motor and sensory, Russe type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99953 Definition Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia,…
McLeod neuroacanthocytosis syndrome
McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in males. Only about 150 cases have been reported worldwide. This condition affects movement in many parts of the body. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses…
Spinocerebellar ataxia autosomal recessive 7
Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the…
Mitochondrial myopathy with lactic acidosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2597 Definition Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and…
MTHFR gene variant
MTHFR is a gene. We all carry two copies of MTHFR. MTHFR tells our body how to create an enzyme involved in breaking down the amino acid homocysteine.[1][2][3] As is true for any gene, the DNA code of the MTHFR gene can vary. When we identify a part of the sequence that varies, we call it a…
Chromosome 14q deletion
Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. 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…
Monilethrix
Monilethrix is a rare condition caused by a defect in the hair shaft resulting in hair which appears dry, dull, and brittle, and which breaks spontaneously or with mild trauma. The age of onset, severity, and course may vary from person to person.[1]
22q11.2 duplication syndrome
22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak…
Renpenning syndrome
Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities….
Chromosome 5q duplication
Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…
Chronic intestinal pseudoobstruction
Chronic intestinal pseudo-obstruction (CIPO) is a rare disease characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the…
Neurofibroma
A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves.[1] Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.
Circumferential skin creases Kunze type
Circumferential skin creases Kunze type (CSC-KT) is a rare congenital disorder that affects the skin, but can also affect other areas of the body. Babies with CSC-KT are born with excess skin that folds over to form thin rings (creases) that circle the arms and legs. CSC-KT was originally called the “Michelin tire baby syndrome”…
Niemann-Pick disease type A
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and…
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2 (CLN2) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Symptoms of the CLN2 generally develop between ages two and four years, although later onset cases have been reported. Children with CLN2 may experience speech delay, seizures that do not respond to medications, loss of muscle…
Cluster headache
Cluster headaches are a form of headache notable for their extreme pain and their pattern of occurring in “clusters”, usually at the same time(s) of the day for several weeks. The headaches are accompanied by autonomic symptoms, and some people experience restlessness and agitation.[1][2][3] A cluster headache begins with severe pain strictly on one side of the…
Oliver syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2920 Definition Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Epidemiology To date, seven individuals in three families have been reported. Clinical description Facial features are not characteristic…
Cohen syndrome
Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet….
Cone dystrophy
Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a…
Paraneoplastic cerebellar degeneration
Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. PCD is typically thought to be caused by antibodies generated against tumor cells. Instead…
Karandikar Maria Kamble syndrome
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Sprengel deformity
Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula).[1] Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing.[2] Signs and symptoms may include a lump in the back of the base of the…
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140969 Definition Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. Epidemiology Around 10 cases have been described in the literature so far. Clinical description Mild…
Spondylocostal dysostosis
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to…
Jackson-Weiss syndrome
Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by specific malformations of the head and facial area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, and findings may include craniosynostosis; unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of…
Hallermann-Streiff syndrome
Hallermann-Streiff syndrome (HSS) is a rare condition with characteristic features that are present at birth and become more apparent over time. Signs and symptoms include an unusually shaped skull, distinctive facial features, thin skin and hair, and eye and dental abnormalities.[1] Other features include poor vision, a small upper airway, and short stature. HSS is…
Fraser syndrome
Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving the larynx (voice box) and trachea (windpipe);…
Hemoglobin C disease
Hemoglobin C disease is a condition affecting a protein in the blood (hemoglobin) which transports oxygen throughout the body. Symptoms of this condition can include fatigue, weakness, and anemia. The spleen can also become enlarged as a result of this disease. For many people with this condition, symptoms are relatively mild and the lifespan is…
Deafness enamel hypoplasia nail defects
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3220 Definition Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau’s lines and leukonychia). Less than 10 patients have…
Phyllodes tumor of the breast
Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast.[1][2] They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek).[2][3] They are most common in women in their 30s and 40s, although women of any age can be affected. These…
Diamond-Blackfan anemia
Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells.[1] Symptoms may include a shortage of red blood cells (anemia), physical abnormalities such as small head size (microcephaly) characteristic facial features, cleft palate, cleft lip, short and webbed neck, small shoulder blades, and defects of…
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder.[1] The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers).[2] The range and severity of symptoms varies…
Onychocytic matricoma
Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally…
Acquired angioedema
Acquired angioedema (AAE) is a rare disorder that causes recurrent episodes of swelling (edema) of the face or body, lasting several days. People with AAE may have swelling of the face, lips, tongue, limbs, or genitals. People with AAE can have edema of the lining of the digestive tract, which can cause abdominal pain and…
Robinow syndrome
Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening…
Disseminated peritoneal leiomyomatosis
Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely…
Acromelic frontonasal dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1827 Definition A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial…
ACTG2-related disorders
ACTG2-related disorders are a subset of visceral myopathy (a condition where the intestine is unable to push food through but where there is not a real intestinal obstruction) with variable involvement of the bladder and intestine. Bladder involvement can range from neonatal megacystis (a bladder with increased size) and megaureter (ureter abnormally wide) at the more severe…
Hereditary sensory and autonomic neuropathy type 1E
Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia)….
16p13.11 microduplication syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261243 Definition 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Epidemiology It has been clinically and molecularly characterized in…
Pheochromocytoma
Pheochromocytomas are tumors of the adrenal glands. These glands are located right above the kidneys. Pheochromocytomas cause the adrenal glands to make too many stress hormones called epinephrines and norepinephrines. This can lead to high blood pressure and cause symptoms such as severe headaches, irritability, sweating, rapid heart rate, nausea, vomiting, weight loss, weakness, chest pain, and…
Medeira-Dennis-Donnai syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2476 Definition A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. Visit the…
Adult-onset nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171442 Definition A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total…
Eagle syndrome
Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. “Classic Eagle syndrome” is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty…
Epidermolysis bullosa simplex, Ogna type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79401 Definition Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering. Epidemiology Prevalence is unknown and EBS-O has been…
Edinburgh malformation syndrome
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2q37 deletion syndrome
2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. About 100 cases have been reported worldwide. This condition is characterized by short stature, weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as…
Fibrocartilaginous embolism
Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord.[1] FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms…
Goldmann-Favre syndrome
Goldmann-Favre syndrome, also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). Within the retina are “red,” “blue,” and “green” cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an…
Kanzaki disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79280 Definition A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. Epidemiology Prevalence of this disorder is not known but less than 20 cases…
Epidermal nevus
An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance….
Keratoderma palmoplantaris transgrediens
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 495 Definition A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the…
Primary cutaneous amyloidosis
Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis:[1][2] Lichen amyloidosis multiple itchy, raised spots…
Anaplastic oligoastrocytoma
Anaplastic oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two…
Tetralogy of Fallot
Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta the artery that carries oxygen-rich blood to the body is shifted over the…
Sideroblastic anemia
Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed…
Ankylosing vertebral hyperostosis with tylosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2206 Definition A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients…
Pyogenic arthritis, pyoderma gangrenosum and acne
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 69126 Definition Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Epidemiology To date, only 34 patients with PAPA syndrome have been reported worldwide, from five…
Atelosteogenesis type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 56305 Definition A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Epidemiology The prevalence of AOIII is unknown. Less than 25 affected patients have been reported. Clinical description AOII, like…
Fenton Wilkinson Toselano syndrome
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Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a severe form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a…
Filippi syndrome
Filippi syndrome is present at birth and impacts the development of the head, face, and limbs. Signs and symptoms include a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features may…
Distal arthrogryposis type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1154 Definition Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia…
Sheldon-Hall syndrome
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is characterized by joint deformities (contractures) that restrict movement in the hands and feet. People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature. Intelligence and life expectancy are not usually affected. Sheldon-Hall syndrome can be…
Fryns Hofkens Fabry syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2497 Definition This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients…
Pyknoachondrogenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3003 Definition A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Epidemiology The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Clinical…
Galloway-Mowat syndrome
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities.[1][2] Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability.[2][3] Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73…
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