Rare Dermatology News

Sacral meningocele conotruncal heart defects

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COG8-CDG (CDG-IIh)

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 95428 Definition The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to…

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Zuska’s disease

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MED13L haploinsufficiency syndrome

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MED13L haploinsufficiency syndrome is a genetic syndrome that causes intellectual disability, speech problems, and behavioral problems. People with the syndrome usually have distinctive facial features, such as eyes that slant upwards, a flat nasal bridge with a bulb-like tip, very small chin (micrognathia), large and lowset ears, and broad forehead.[1] Most children with the syndrome have…

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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts…

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Carpotarsal osteochondromatosis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2767 Definition Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. Visit the Orphanet disease page for more resources.

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Leukodystrophy

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A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to…

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Schaap Taylor Baraitser syndrome

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Limb-girdle muscular dystrophy type 2F

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 219 Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated…

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Diffuse cavernous hemangioma of the rectum

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Tetanus

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Central neurocytoma

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 73256 Definition Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those…

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Lymph Node Neoplasm

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Spinocerebellar ataxia X-linked type 2

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Mac Dermot Winter syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2083 Definition Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Visit the…

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Spastic diplegia cerebral palsy

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Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood, and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected…

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Malignant peripheral nerve sheath tumor

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A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops in the protective lining that covers nerves.[1][2][3] The first symptom of MPNST is often a lump or mass that increases in size, sometimes causing pain or a tingling sensation.[1] MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor…

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Charcot-Marie-Tooth disease type 2F

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Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles…

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MASS phenotype

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MASS phenotype is a familial connective tissue disorder similar to Marfan syndrome that affects different people in different ways.[1] MASS is an acronym for features of the disorder that may be present:[1][2][3] Mitral valve prolapse a heart condition in which the two valve flaps of the mitral valve in the heart do not close smoothly or evenly, and bulge…

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Chester porphyria

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Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in…

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MEGDEL syndrome

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OSMED Syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1427 Definition Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. Epidemiology The…

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Meningococcemia

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Choroideremia hypopituitarism

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Pyle disease

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Pyle disease is a bone disorder characterized by knock knees (genu valgum), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone (Erlenmeyer flask deformity), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly), and thinning of outer (cortical) layer…

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Chromosome 11q deletion

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Chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. 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…

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Microphthalmia associated with colobomatous cyst

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17q23.1q23.2 microdeletion syndrome

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17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb…

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MIRAGE syndrome

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MIRAGE syndrome is a condition characterized by Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (intestinal problems). It was originally described in 11 patients who had growth restriction, intellectual disability, developmental delay, adrenal insufficiency resulting in skin hyperpigmentation, symptoms of salt loss, poorly developed and abnormal genitalia (small penis, absence of one…

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Chromosome 1p duplication

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Chromosome 1p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 1. 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…

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Mosaic trisomy 9

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Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body’s cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe…

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Chromosome 5p duplication

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Chromosome 5p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) 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…

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Punctate inner choroidopathy

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Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid (vascular layer) of the eye. It most commonly occurs in young, near-sighted (myopic) women. The symptoms and severity may vary from person to person. Symptoms may include a blind spot (scotomata), blurred vision, photopsia (perceived flashes of light), floaters, light sensitivity (photophobia), distorted…

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Chromosome 9p duplication

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Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. 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…

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X-linked myopathy with excessive autophagy

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X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. As the condition progresses, men with XMEA may experience weakness in their lower…

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Chudley Rozdilsky syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3068 Definition Intellectual disability-myopathyshort stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature,…

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Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3145 Definition This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. Epidemiology It has been described in two siblings. Differential diagnosis Differential diagnosis includes Cockayne syndrome (see…

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Neuronal interstitial dysplasia

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Cleft lip palate-tetraphocomelia

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Oculomaxillofacial dysostosis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1794 Definition Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon,…

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Cutis marmorata telangiectatica congenita

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Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia).[1][2] The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face…

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Oculodentoosseous dysplasia recessive

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Coffin syndrome 1

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Osteoporosis-pseudoglioma syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2788 Definition Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Epidemiology The estimated prevalence is 1/2 000 000. Clinical description Additional clinical…

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Molybdenum cofactor deficiency

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Peripheral T-cell lymphoma

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Osteodysplasia familial Anderson type

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2769 Definition Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis)…

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Conductive deafness with malformed external ear

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3216 Definition A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing…

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Pili annulati

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Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding.[1] People with pili annulati may describe their hair as “striped” or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may…

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Pelger-Huet anomaly

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Pelger-Huet anomaly (PHA) is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy). Click here to view a picture of these cells seen under the microscope. PHA…

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Facio thoraco genital syndrome

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Plasmablastic lymphoma

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Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression…

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Congenital ectodermal dysplasia with hearing loss

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Short rib-polydactyly syndrome type 3

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93271 Definition Short ribpolydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis…

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Congenital hypotrichosis milia

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Renal tubular dysgenesis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3033 Definition Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat…

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Yorifuji Okuno syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2255 Definition Pancreatic hypoplasia-diabetescongenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)….

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Conotruncal heart malformations

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2445 Definition A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition…

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Tetrasomy X

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Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but…

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Cor biloculare

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Renal glycosuria

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Renal glycosuria is a rare condition in which glucose is excreted in the urine despite normal or low blood glucose levels. With normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in people with renal glycosuria, glucose is abnormally eliminated in the…

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Legg-Calve-Perthes disease

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Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die.[1] LCPD usually occurs in children between the ages of 4 and 10.[2] Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of…

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Rhabdomyomatous mesenchymal hamartoma

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Craniofrontonasal syndrome Teebi type

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Hairy palms and soles

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Spinocerebellar ataxia 10

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98761 Definition Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild…

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Crohn’s disease of the esophagus

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Hanhart syndrome

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Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical…

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Cutis laxa, autosomal recessive type 2B

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Ehrlichiosis

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Spondyloepimetaphyseal dysplasia Matrilin-3 related

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 156728 Definition Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat…

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Cystic adventitial disease

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Progressive familial heart block type 1A

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Trypanosomiasis, Human East-African

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Donnai-Barrow syndrome

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Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or…

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Hemifacial hyperplasia strabismus

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1241 Definition Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild…

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Snyder-Robinson syndrome

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Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other…

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DEAF1-associated disorders

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DEAF1-related disorders are neurologic diseases that mainly present with intellectual disability, speech impairment and motor developmental delay.[1][2] Additional features that have being described include seizures, brain malformations, behavioral problems, autism, stomach and/or intestinal problems, and skeletal problems (flat foot or hip dislocation). Some people with DEAF1-related disorders may also have some features that resemble another disease…

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Congenital extrahepatic portosystemic shunt

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Congenital extrahepatic portosystemic shunt (CEPS) occurs when the blood vessels that go to the liver do not form correctly during fetal development. Toxins, that are normally removed by the liver, build up in the blood stream and can lead to symptoms such as decreased oxygen to the brain (hypoxia) and loss of brain function (hepatic…

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Spondylometaphyseal dysplasia X-linked

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168544 Definition Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be…

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Orofaciodigital syndrome 13

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 141330 Definition Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and…

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Absent patella

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86789 Definition Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. Visit the Orphanet disease page…

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Supratentorial primitive neuroectodermal tumor

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Acheiropody

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Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the…

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Taurodontism, microdontia, and dens invaginatus

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Erythema multiforme

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Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications,…

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Methylmalonic acidemia

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Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises.[1] Symptoms of a decompensation event include poor feeding, vomiting, trouble breathing, and lack of energy (lethargy)….

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Transaldolase deficiency

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101028 Definition Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Epidemiology…

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Fryns syndrome

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Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many indiivduals with this condition have defects of the diaphragm such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move…

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Acrofacial dysostosis Rodriguez type

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1788 Definition A rare multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The…

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Trigonocephaly bifid nose acral anomalies

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3368 Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies,…

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Diffuse idiopathic skeletal hyperostosis

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Diffuse idiopathic skeletal hyperostosis (DISH) is a common skeletal disorder characterized by unusual, new bone formation. The new bone forms most often where ligaments and tendons (connective tissues that connect bones) join bone (entheseal area), but there is also a generalized hardening of bones and bone overgrowth (hyperostosis).[1] Although these changes are most often seen in…

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Acro-pectoro-renal field defect

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Distal myopathy with vocal cord weakness

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 600 Definition Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles)…

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Acute flaccid myelitis

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Acute flaccid myelitis (AFM) is a condition that affects the spinal cord leading to muscle weakness and loss of reflexes. Most people who develop AFM have had a viral illness with flu-like symptoms one to four weeks before symptoms of AFM. Symptoms of AFM include sudden onset (acute) of weakness in the arm(s) or leg(s),…

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West Nile virus infection

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Autosomal dominant centronuclear myopathy

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Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don’t develop…

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Drug induced dyskinesia

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Drug induced dyskinesia is an involuntary movement disorder. Signs and symptoms include repetitive and irregular motions of the mouth, face, limbs and/or trunk.[1] Treatment with antipsychotic drugs and levodopa (commonly used to treat Parkinson disease) are well recognized causes of drug-induced dyskinesia.[1][2][3] Dyskinesia develops in around 40% of people with Parkinson’s disease who have been on levodopa treatment…

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Epithelial-myoepithelial carcinoma

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