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Calvarial hyperostosis
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King Denborough syndrome
The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance.[1] Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core…
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects:[1][2][3] Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement Areflexia: loss of reflexes …
PMM2-CDG (CDG-Ia)
Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal…
Leiomyosarcoma
Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells.[1] Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear…
White sponge nevus of cannon
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171723 Definition White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both…
Liposarcoma
Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, legs, behind the knee, or in the abdomen, but it can be found in other parts of the body, in the retroperitoneum; and, less often, in the head and neck area. Their primary occurrence in the skin is rare. Because a liposarcoma may…
Craniosynostosis, anal anomalies, and porokeratosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85199 Definition Craniosynostosis anal anomalies porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption…
Median arcuate ligament syndrome
Median arcuate ligament syndrome (MALS) is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal…
17-beta hydroxysteroid dehydrogenase 3 deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are…
Cerebrospinal fluid leak
Cerebrospinal fluid (CSF) otorrhea is the leakage of cerebrospinal fluid (CSF) though the ear. It is a rare but very serious condition that requires rapid intervention. Symptoms include leak of clear fluid through the ear, inflammation of the membranes that cover the brain (meningitis), hearing loss, and seizures. The cause of a spinal fluid leak…
Myoepithelial carcinoma
Myoepithelial carcinoma is a rare malignant (cancerous) tumor that usually occurs in the salivary glands in the mouth, but can also occur in skin and soft tissues. Approximately 66% of these tumors occur in a part of the salivary gland, known as the parotid gland. The average age of diagnosis is 55 years. Symptoms of myoepithelial carcinoma usually begin…
Corneal endothelial dystrophy type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 293603 Definition Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth…
Metaphyseal chondrodysplasia Spahr type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2501 Definition A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses),…
Porencephaly
Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay,…
Metacarpals 4 and 5 fusion
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2498 Definition Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and…
Ring chromosome 11
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Viljoen Kallis Voges syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3433 Definition Microcephalybrachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It…
Pulmonary arterio-veinous fistula
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2038 Definition Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying…
Frias syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 264200 Definition 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth…
Chromosome 18p duplication
Chromosome 18p duplication is a rare chromosome abnormality in which there are three copies of the short (p) arm of chromosome 18 in each cell, rather than the usual two copies. The severity of the condition and the signs and symptoms depend on the size and location of the duplicated genetic material and which genes are…
3q29 microdeletion syndrome
3q29 microdeletion syndrome is a rare chromosome disorder. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size (microcephaly). Some babies with this condition are born with a cleft lip or cleft palate, and a few have been reported to have…
Wilson-Turner syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3459 Definition Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. Epidemiology Prevalence of WTS is not known. The…
Rombo syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3110 Definition Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. Epidemiology It has been described in four generations of one family and in two additional…
Chromosome 5q deletion
Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located 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 deletion and which genes are involved. Features that often…
Kleefstra syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261494 Definition Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. Epidemiology The prevalence is…
Nablus mask-like facial syndrome
Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pattern; permanently bent fingers and toes (camptodactyly); joint deformities (contractures) that restrict movement in the hands and feet; unusual…
PHIP-Related disorder
PHIP-related disorder, also known as Chung-Jansen syndrome, is a rare condition caused by a change in the pleckstrin homology domain-interacting protein (PHIP) gene. The most common signs and symptoms, include mild to severe learning problems, behavior problems, and a tendency toward being overweight.[1][2] PHIP-related disorder is an autosomal dominant condition. This means that a person…
Severe congenital neutropenia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 42738 Definition Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit. Epidemiology The prevalence in the general population is estimated at 1-1.7/333,300. Annual incidence is…
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of…
Spastic paraplegia 31
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101011 Definition A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of…
Orofaciodigital syndrome 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2755 Definition Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or…
Spontaneous coronary artery dissection
Spontaneous coronary artery dissection (SCAD) is a condition in which blood accumulates between the layers of tissue that make up the wall of the coronary artery (the vessel that supplies blood to the heart). The trapped blood then creates a blockage which interferes with blood flow to the heart. Depending on the degree of blockage,…
Epithelial basement membrane corneal dystrophy
Epithelial basement membrane corneal dystrophy (EBMD), also called map-dot-fingerprint dystrophy, is an eye condition that affects the cornea. The epithelium is the cornea’s outermost layer, and the basement membrane is the layer that the epithelium attaches to.[1][2] EBMD occurs when the epithelial basement membrane develops abnormally, resulting in folds in the tissue. It is sometimes…
Optic pathway glioma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2086 Definition Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such…
Thymic-Renal-Anal-Lung dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3326 Definition This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. Epidemiology It has been described in three girls born to a nonconsanguineous couple. Clinical description Two of…
Osteomalacia
Osteomalacia is a disease that is characterized by a weakening of the bone, often due to a deficiency of vitamin D. This vitamin supports the development of the bones of the body, so when there are low levels of vitamin D, the bones are not strong enough. Symptoms of osteomalacia can include muscle weakness, bone…
Congenital vertical talus
Congenital vertical talus, sometimes called “rocker-bottom foot,” is a rare birth defect of the foot in which the talus bone has formed in the wrong position and other foot bones have shifted on top of it. As a result, the front of the foot points up and the bottom of the foot is stiff and…
Urachal cyst
A urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older…
X-linked myotubular myopathy
X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. XLMTM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia) that can range from mild to severe. The muscle problems impair the development…
Developmental prosopagnosia
Developmental prosopagnosia is a lifelong condition that impairs a person’s ability to recognize faces, in the absence of sensory visual problems and intellectual impairment.[1] People with this condition have normal intelligence and memory, typical low-level vision, and no history of brain injury. They typically learn to use non-face cues including voice, walking style (gait) and…
Dentin dysplasia, coronal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99791 Definition Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition. Epidemiology Prevalence of DD-II is not known….
Warfarin sensitivity
Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a “blood-thinning” medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to…
Shprintzen-Goldberg craniosynostosis syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2462 Definition Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Visit the Orphanet disease page for more resources.
Simple cryoglobulinemia
Simple cryoglobulinemia occurs when the body makes an abnormal immune system protein called a cryoglobulin. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. If symptoms occur, they may…
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon-ectodermal defectscleft lip/palate syndrome (AEC syndrome) is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and…
Cutler Bass Romshe syndrome
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X-linked congenital generalized hypertrichosis
X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease. It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional…
Osteopoikilosis and dacryocystitis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1562 Definition Dacryocystitis osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic…
HELLP syndrome
HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy.[1] It is named for 3 features of the condition: Hemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery.[2] A wide range of non-specific symptoms…
SHORT syndrome
SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the…
Intervertebral disc disease
Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals.[1][2][3] Both environmental and genetic factors are thought to predispose an individual to developing the condition.[3] Treatment…
Acanthosis nigricans muscle cramps acral enlargement
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Glucocorticoid-remediable aldosteronism
Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high…
Acral peeling skin syndrome
Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. “Acral” refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs.[1][2] The peeling is usually present from birth, but can appear…
VIPoma
A VIPoma is a rare cancer caused by a type of pancreatic neuroendocrine tumor, which is tumor that arises from cells that produce hormones allowing the tumor itself to produce hormones. A VIPoma secretes vasoactive intestinal peptide (VIP), a hormone that stimulates the secretion (and inhibits the absorption) of sodium, chloride, potassium and water within the small…
Gianotti Crosti syndrome
Gianotti Crosti syndrome (GCS) is a rare childhood skin condition characterized by a papular rash with blisters on the skin of the legs, buttocks, and arms. It typically affects children between 9 months and 9 years of age. Skin lesions typically last at least 10 days and often last for several weeks. The lesions are…
Mal de debarquement syndrome
Mal de debarquement syndrome is a neurological disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness,…
ACTH-independent macronodular adrenal hyperplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189427 Definition A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent…
Acute myeloblastic leukemia with maturation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98834 Definition A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater…
Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonic-clonic seizures. Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures…
Dyschromatosis universalis hereditaria
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 241 Definition A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyperand hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles…
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal…
Rare Nephrology News