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Cystic hygroma
A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. It is most commonly located in the neck or head area, but can be located anywhere in the body. It may be discovered in a fetus during a pregnancy ultrasound, or it may be apparent at birth as a soft bulge…
Daneman Davy Mancer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2091 Definition Multinodular goiter cystic kidney polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Epidemiology It has been described in two sibs and…
Hemimegalencephaly
Hemimegalencephaly is a rare malformation involving one side of the brain.[1][2] It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome.[1] Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development.[2][3]…
Vohwinkel syndrome
Vohwinkel syndrome is an inherited condition that affects the skin. People with the “classic form” generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers…
Absence of fingerprints congenital milia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1658 Definition A rare syndrome syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two…
Vici syndrome
Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of…
Dentin dysplasia sclerotic bones
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99792 Definition Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed…
Acrocardiofacial syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2008 Definition A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. Epidemiology The incidence of ACFS has not been determined due to…
Ogilvie syndrome
Ogilvie syndrome is a rare condition that affects the large intestines (colon). Although the signs and symptoms mimic those of an intestinal blockage, there is no physical obstruction. Instead, the symptoms are due to nerve or muscle problems that affect peristalsis (the involuntary, rhythmic muscular contractions that move food, fluid, and air through the intestines)….
Split spinal cord malformation
Split spinal cord malformation (SSCM) is a rare form of spinal dysraphism in which a person is born with splitting, or duplication, of the spinal cord. It may be characterized by complete or incomplete division of the spinal cord, resulting in two ‘hemicords.’ There are two types of SSCM. In type I, each hemicord has…
Small cell carcinoma of the bladder
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284400 Definition Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course. Epidemiology SCCB is extremely rare…
Dihydropyrimidinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 38874 Definition Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and…
Acute disseminated encephalomyelitis
Acute disseminated encephalomyelitis (ADEM) is a neurological condition characterized by a brief but intense attack of inflammation in the brain and spinal cord. This may lead to damage of the layer of insulation around the nerves (myelin) within affected areas.[1] ADEM often follows viral infection, or less often, vaccinations for measles, mumps, or rubella (MMR).[2] Symptoms…
Pseudodiastrophic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85174 Definition Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10…
Wandering spleen
Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur…
Lipodermatosclerosis
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles.[1][2] The exact underlying cause is unknown;…
Double outlet left ventricle
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Adactylia unilateral
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 973 Definition Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic…
Duarte Galactosemia
Duarte galactosemia is a mild variant of classic galactosemia, a condition that affects how the body processes galactose (a simple sugar found in milk, dairy products, and other foods). Unlike the other forms of galactosemia, most affected infants do not develop any concerning signs or symptoms even when breastfed or on a galactose-containing formula. Some…
Qazi Markouizos syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3010 Definition A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance…
Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs. Symptoms begin in adulthood and can include loss of vision, Raynaud’s disease, kidney and liver disease, and cognitive problems that get worse over time. Other symptoms may include migraines, gastrointestinal bleeding, and hypothyroidism. Death…
Meier-Gorlin syndrome
Meier-Gorlin syndrome (MGS) is a very rare inherited condition characterized by very small ears and ear canals, short stature, and absent or very small kneecaps (patellae).[1][2][3] Other signs and symptoms can include hearing loss, feeding problems, respiratory tract abnormalities, small chin, and small head size. People with MGS may also have characteristic facial features including…
Familial amyloidosis, Finnish type
Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin.[1] The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa (“sagging” skin). Symptoms generally worsen with age. This condition is inherited in…
Spinocerebellar ataxia 21
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98773 Definition Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive…
Early infantile epileptic encephalopathy 4
Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced…
SCN2A related disorders
SCN2A related disorders are a group of epilepsy and neurodevelopmental disorders, each caused by changes (mutations) in a gene called SCN2A.[1] These disorders range from mild to severe and primarily include:[2] Infantile epileptic encephalopathy (IEE) characterized by seizures beginning in infancy (before 12 months of age) followed by developmental delay. Benign (familial) infantile seizures (BISs) characterized by seizures…
Isolated ectopia lentis
Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the…
Al Gazali syndrome
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Spondyloepimetaphyseal dysplasia Sponastrime type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93357 Definition A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned…
Spastic paraplegia 13
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100994 Definition A rare hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Visit the Orphanet disease page for…
MGAT2-CDG (CDG-IIa)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79329 Definition MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements,…
Limb-girdle muscular dystrophy, type 2D
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 62 Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures…
Slipped capital femoral epiphysis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 399329 Definition Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients…
Trigeminal neuralgia
Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain.[1] The pain may…
Trisomy 3 mosaicism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100071 Definition Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears,…
Familial cerebral cavernous malformation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221061 Definition A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits,…
Antecubital pterygium
Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. It is inherited in an autosomal dominant fashion.[1] This condition is sometimes found as a symptom of nail-patella syndrome.
Weaver Williams syndrome
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Aquagenic pruritus
Aquagenic pruritus causes intense itching without any visible skin changes after contact with water of any temperature. The symptoms may begin immediately after contact and can last for an hour or more.[1] The cause of aquagenic pruritus is unknown; however, familial cases have been described.[1][2] Aquagenic pruritis is sometimes a symptom of other conditions such as polycythemia vera….
Joubert syndrome with oculorenal anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2318 Definition A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. Epidemiology Prevalence is unknown. Clinical description Patients present…
Arthrogryposis-like hand anomaly and sensorineural deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1144 Definition A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Visit the Orphanet disease page for more resources.
Orofaciodigital syndrome 11
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141000 Definition Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal…
Atransferrinemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1195 Definition Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can…
Autosomal dominant optic atrophy and cataract
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67036 Definition A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional…
Spastic paraplegia 5A
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100986 Definition Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes…
Grover’s disease
Grover’s disease is a skin condition that causes the appearance of small, red spots. These spots usually develop on the chest or back, but may also form on other parts of the body. This condition frequently leads to intense itching, although it may cause no symptoms. Most cases last six to twelve months. Occasionally, this condition may persist for…
Hemorrhagic shock and encephalopathy syndrome
Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, impairment of the blood’s ability to clot (coagulopathy), abnormal brain function or structure (encephalopathy), and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months of age,…
Bazex-Dupre-Christol syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 113 Definition Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Epidemiology So far, 143 cases have been reported, mostly from France and Belgium. Clinical description The disease manifests during…
X-linked visceral heterotaxy 1
X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males.[1] Physical…
Human T-cell leukemia virus type 2
Human Tcell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by blood transfusions, sexual contact and sharing…
Meralgia paresthetica
Meralgia paresthetica is a condition characterized by numbness, tingling, and a burning pain in the outer thigh. Symptoms may worsen after walking or standing.[1] The condition usually affects only one side of the body, but both sides may be affected in up to 20% of cases.[2] Meralgia paresthetica is caused by compression of the lateral…
X-linked lissencephaly with abnormal genitalia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 452 Definition X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset…
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1200 Definition Choanal atresia deafness cardiac defects dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial…
Hypofibrinogenemia, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101041 Definition Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. Epidemiology Prevalence is unknown but hypofibrinogenemia is more frequent than afibrinogenemia…
Hypoparathyroidism
Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury…
Interstitial cystitis
Interstitial cystitis (IC) is a chronic condition that causes painful urinary symptoms. Symptoms and severity can vary. Some people may have only mild discomfort, or feel tenderness or pressure in the bladder or pelvis. Others may experience intense bladder pain, urgent or frequent needs to urinate, or pain during sexual intercourse.[1][2] Symptoms may be constant, or they…
Idiopathic hypersomnia
Idiopathic hypersomnia (IH) is a neurological sleep disorder that can affect many aspects of a person’s life. Symptoms often begin between adolescence and young adulthood and develop over weeks to months. People with IH have a hard time staying awake and alert during the day (chronic excessive daytime sleepiness, or EDS). They may fall asleep unintentionally…
Bronchiolitis obliterans organizing pneumonia
Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli).[1] BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry…
Brachydactyly
Brachydactyly is a general term characterized by disproportionately short fingers and toes. It can occur as an isolated finding or as part of a complex syndrome. Many different types of brachydactyly have been identified. Some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. The…
Rare Infectious Disease News