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Multiple congenital anomalies-hypotonia-seizures syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 280633DefinitionA rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary…
Congenital microcoria
Congenital microcoria is a rare eye disorder affecting the development of the irises. It is characterized by absence or incomplete development of the iris dilator muscles (also called the pupil dilator muscles), making the pupils unable to dilate (widen).[1] People with congenital microcoria have small pupils (with a diameter less than 2 millimeters) that dilate…
Fibrillary glomerulonephritis
Fibrillary glomerulonephritis is an uncommon cause of glomerular disease. A more rare disorder known as immunotactoid glomerulpathy is a very similar condition. Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The diagnosis is made with a kidney biopsy and by electron microscopy. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be differentiated…
Hunter-McAlpine syndrome
Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the…
Hall-Riggs syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2107 Definition Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. Epidemiology Eight cases have been reported in the literature in two unrelated families. Clinical…
Spondyloepimetaphyseal dysplasia, Handigodu type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99642 Definition Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no…
Kyphoscoliotic Ehlers-Danlos syndrome
Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera.[1][2] kyphoscoliosis EDS is caused by changes (mutations) in…
Fetal cystic hygroma
Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress…
Spondyloepimetaphyseal dysplasia Strudwick type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93346 Definition Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot,…
Johnson neuroectodermal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2316 Definition Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Epidemiology So far, less than 30…
Nathalie syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2663 Definition A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well…
Acrocallosal syndrome, Schinzel type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 36 Definition A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Epidemiology The prevalence is not known but fewer than 50 cases of ACS…
Deafness-lymphedema-leukemia syndrome
Deafness-lymphedema-leukemia syndrome is a very rare genetic disorder characterized by swelling (lymphedema), a weak immune system (immunodeficiency), and blood disorders. Signs and symptoms may include congenital deafness, swelling of the legs and genitalia, a type of cancer known as acute myeloblastic leukemia, reduction of the blood cells (pancitopenia), scarring of the liver (cirrhosis), heart problems…
Asternia
Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called the sternum does not form properly. The sternum usually connects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the…
Chondrodysplasia, Grebe type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2098 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped…
Dextrocardia with situs inversus
Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the…
Acquired generalized lipodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79086 Definition A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of…
Diaphragmatic flutter
Diaphragmatic flutter is a disease in which there are repeated involuntary contractions of the diaphragm, the muscle that separates the heart and lungs from the abdomen. The abnormal flutter of the diaphragm affects the way the lungs can expand and contract during breathing.[1] Symptoms of diaphragmatic flutter may include difficulty breathing, abdominal pain, heart palpitations,…
Nager acrofacial dysostosis
Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family.[1][2] Treatment is tailored to the individual based upon their specific needs.[2] This condition is caused by mutations in the SF3B4 gene.[1] While most cases are…
Blau syndrome
Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis.[1] It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of…
Double uterus-hemivagina-renal agenesis
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Potocki-Lupski syndrome
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have some degree of developmental delay (primarily speech delay), low muscle tone, poor feeding, and failure to thrive during infancy. In addition, many individuals display…
Adiposis dolorosa
Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is…
Thanatophoric dysplasia
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or…
X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized…
Scholte syndrome
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Aromatase excess syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178345 Definition A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with preor peripubertal onset of gynecomastia, premature growth…
GNAO1 encephalopathy
GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia).[1][2] The severity of symptoms can vary. Symptoms may be…
Agnosia
Agnosia is characterized by an inability to recognize and identify objects and/or persons. Symptoms may vary, according to the area of the brain that is affected.[1] It can be limited to one sensory modality such as vision or hearing; for example, a person may have difficulty in recognizing an object as a cup or identifying a…
Lelis syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140936 Definition Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Epidemiology So far, only eight cases have been described in the literature. Clinical description Other clinical features…
Al Gazali Sabrinathan Nair syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2773 Definition Osteogenesis imperfecta-retinopathyseizuresintellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. Visit the Orphanet…
Elastoderma
Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially…
Alexander disease
Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain…
Meningoencephalocele
Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at…
Al-Gazali-Donnai-Mueller syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2153 Definition Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum,…
Temporal epilepsy, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98819 Definition A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development…
Loeys-Dietz syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284984 Definition A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and…
Familial nasal acilia
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Microphthalmia syndromic 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2470 Definition Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Epidemiology Only five cases have been reported so far, two of whom were…
Pigmented purpuric dermatosis
Pigmented purpuric dermatosis is a chronic condition characterized by reddish-brown skin lesions caused by leaky capillaries. Although they can arise on any part of the body, they are most commonly located on the lower legs.[1][2] In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own.[1] The cause of…
Antiphospholipid syndrome
Antiphospholipid syndrome (APS) is an autoimmune disorder. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures.[1] APS occurs when your body’s immune system makes antibodies that attack phospholipids. Phospholipids are a type of fat found in all living cells, including blood cells and the lining of blood vessels….
Familial visceral myopathy with external ophthalmoplegia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1876 Definition Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. Visit the Orphanet disease…
Pemphigus
Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).[1] This condition can occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance,…
Spastic paraplegia 51
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Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood.[1] This condition is also associated with a group of…
Arachnoid cysts
Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary arachnoid cysts are congenital (present at birth), resulting from abnormal development of the…
Floating-Harbor syndrome
Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970s: Boston Floating Hospital and Harbor General Hospital in California.[1] Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, kidney problems, minor problems with hearing and vision, characteristic facial features, speech and language problems, and mild…
Pityriasis lichenoides
Pityriasis lichenoides (PL) is a skin condition characterized by small, raised pink spots that tend to come together in groups. It is not contagious. There are two main types of PL: an acute form called pityriasis lichenoides et varioliformis acuta (PLEVA), and a milder, longer-lasting form called pityriasis lichenoides chronica (PLC).[1] There is also a rare,…
Infantile histiocytoid cardiomyopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137675 Definition Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. Epidemiology The prevalence is unknown but less than 100…
Pruritic urticarial papules plaques of pregnancy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64745 Definition A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy,…
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1484 Definition Contractures ectodermal dysplasia cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia…
Atrial myxoma, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 615 Definition Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling…
Gaucher disease perinatal lethal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85212 Definition Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term). Epidemiology It is very rare with an incidence of less than 5% of GD cases. Clinical description This…
Pyomyositis
Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of cases are caused by the…
Auriculo-condylar syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137888 Definition A rare disorder that presents with bilateral external ear malformations (‘question mark’ ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay,…
Giant cell tumor of bone
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363976 Definition A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells),…
Autoimmune oophoritis
Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body’s immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such…
Gliomatosis cerebri
Gliomatosis cerebri is a type of malignant (cancerous) brain tumor called a glioblastoma that develops from a specific type of brain cell called an astrocyte.[1] It involves at least three sections (lobes) within the main part of the brain (cerebrum). It may also affect both sides of the cerebrum as well as the nerve cells…
Sandifer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71272 Definition Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. Epidemiology The prevalence is unknown. Clinical description Onset usually occurs during infancy or…
Hypospadias-intellectual disability, Goldblatt type syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2261 Definition Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly,…
Spinocerebellar ataxia 4
Spinocerebellar ataxia 4 (SCA4) is a very rare form of hereditary progressive movement disorder. Symptoms include muscle weakness (atrophy) and difficulty coordinating body movements (ataxia), most notably causing a jerky, unsteady walking style (gait) and difficulty speaking (dysarthria).[1][2] A distinctive feature of SCA4 is the progressive loss of feeling or sensation in the hands and…
Growth hormone insensitivity with immunodeficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 181393 Definition Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS…
Spondyloepimetaphyseal dysplasia joint laxity
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Palindromic rheumatism
Palindromic rheumatism (PR) is a type of recurrent arthritis characterized by episodes or “attacks” of joint inflammation, sequentially affecting one to several joint areas for hours to days.[1][2] A PR attack often occurs suddenly without any obvious triggers or warning symptoms. Any joint(s) may be affected, but finger joints, wrists, and knees are most commonly…
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.[1] Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is…
Hereditary sensorimotor neuropathy with hyperelastic skin
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280598 Definition Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and…
Biotin-thiamine-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages…
Spondyloepimetaphyseal dysplasia with hypotrichosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168443 Definition Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu…
Glycoprotein VI deficiency
Glycoprotein VI deficiency is a rare condition that decreases the body’s ability to form blood clots. As a result, affected people may experience frequent nosebleeds and abnormally heavy or prolonged bleeding following minor injury or surgery. Women with the condition often have heavy or prolonged menstrual periods. Glycoprotein VI deficiency can be caused by changes…
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome (HLHS) is a heart condition present from birth (congenital heart defect). In HLHS, the heart’s left side (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped.[1] At birth, oxygen-rich blood bypasses the underdeveloped left side of the heart, going through openings between the left and right side that…
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