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Phocomelia
Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk. The involvement of the…
CHOPS syndrome
CHOPS syndrome is rare condition that affects many different parts of the body. “CHOPS” is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene…
Xeroderma pigmentosum, variant type
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TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TANGO2related metabolic encephalopathy and arrhythmias is a disease that can cause episodes of metabolic crises and abnormal heart rhythms (arrhythmia). A metabolic crisis is caused by having low blood sugar (hypoglycemia) and the buildup of toxic products in the blood. A metabolic crisis can occur in any person with a metabolic disorder, and they are…
Purine nucleoside phosphorylase deficiency
Purine nucleoside phosphorylase (PNP) deficiency is a disorder of the immune system (primary immunodeficiency) characterized by recurrent infections, neurologic symptoms, and autoimmune disorders. PNP deficiency causes a shortage of white blood cells, called T-cells, that help fight infection. Some people with this condition develop neurologic symptoms, such as stiff or rigid muscles (spasticity), uncoordinated movements (ataxia), developmental delay, and intellectual…
Ring chromosome 16
Ring chromosome 16 is characterized by postnatal growth deficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.[1][2][3][4] To date, less than 10 cases have been reported in the medical literature.[4]
Chromosome 19q13.11 deletion syndrome
Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin…
Prader-Willi habitus, osteopenia, and camptodactyly
Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures….
Multicentric reticulohistiocytosis
Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans.[1] The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of…
Chromosome 9p deletion
Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 9. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include…
PURA syndrome
PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, moderate to severe intellectual disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. Additional signs and symptoms may include autism; excessive drowsiness; difficulty controlling body temperature; heart, gastrointestinal, eye and hormonal problems; skeletal problems such as an abnormal curvature of the spine…
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3085 Definition Retinitis pigmentosa intellectual disability deafness hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males…
Stuve-Wiedemann syndrome
Stuve-Wiedemann syndrome (STWS) is a congenital skeletal (bone) dysplasia characterized by small stature, bowing of the long bones, and other skeletal anomalies. Patients often present with serious complications such as breathing and feeding difficulties and episodes of hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations…
Ocular cicatricial pemphigoid
Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring…
Richter syndrome
Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low platelet counts (which can lead to easy bleeding…
Popliteal pterygium syndrome
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Other symptoms may include depressions (pits) near the center of the lower lip, small mounds of tissue on the lower lip, or missing teeth….
Spinocerebellar ataxia 14
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98763 Definition Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus….
Poikiloderma with neutropenia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221046 Definition Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic…
SCARF syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3134 Definition SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The…
Odontomicronychial dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1811 Definition Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and…
Testicular seminoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 842 Definition Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught…
Collagen VI related muscular dystrophy
Collagen type VI-related disorders are caused by alterations (mutations) of collagen genes (COL6A1, COL6A2, or COL6A3 genes) and include diseases that are mild like Bethlem myopathy or more severe like the Ullrich congenital muscular dystrophy (CMD). Diagnosis depends on typical clinical features, muscle biopsy (for suspected Ullrich CMD) or skin biopsy (for suspected Bethlem myopathy)…
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
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Optic neuritis
Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.[1][2] The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12….
Osteogenesis imperfecta type IV
Osteogenesis imperfecta type IV (OI type IV) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. OI type IV is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Although signs…
Pancreatic adenoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93292 Definition A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes,…
Syngnathia multiple anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3262 Definition Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral…
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form.[1] Signs and symptoms of ZS typically become apparent…
Hydrocephalus obesity hypogonadism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2183 Definition This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. Epidemiology It has been described in two males from one family. Genetic counseling An X-linked…
Nemaline myopathy
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have…
Corneal hypesthesia, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231013 Definition Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents…
Craniomicromelic syndrome
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Histiocytosis-lymphadenopathy plus syndrome
Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body.[1] This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once…
Lambdoid synostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3267 Definition Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge,…
Wiedemann-Steiner syndrome
Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, growth delay, and intellectual disability. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings. People with WSS may also have excessive hair on the elbows, arms, and back; difficulty feeding; behavior problems; and seizures. Because WSS has been reported in a…
Ichthyosis hystrix, Curth Macklin type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79503 Definition Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term). Epidemiology…
Hemoglobin C disease
Hemoglobin C disease is a condition affecting a protein in the blood (hemoglobin) which transports oxygen throughout the body. Symptoms of this condition can include fatigue, weakness, and anemia. The spleen can also become enlarged as a result of this disease. For many people with this condition, symptoms are relatively mild and the lifespan is…
Deafness enamel hypoplasia nail defects
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3220 Definition Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau’s lines and leukonychia). Less than 10 patients have…
Polydactyly myopia syndrome
Polydactyly myopia syndrome is characterized by postaxial polydactyly (the presence of an extra digit on the side of the hand or foot by the pinky or small toe) and progressive myopia. This condition was originally described in 9 persons in 4 generations of a family in Hungary in 1986. Family history suggests autosomal dominant inheritance.[1][2][3]
Diamond-Blackfan anemia
Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells.[1] Symptoms may include a shortage of red blood cells (anemia), physical abnormalities such as small head size (microcephaly) characteristic facial features, cleft palate, cleft lip, short and webbed neck, small shoulder blades, and defects of…
Williams syndrome
Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems.[1] Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a “deletion“).[1][2] The loss of these genes contributes…
Onychocytic matricoma
Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally…
Acquired angioedema
Acquired angioedema (AAE) is a rare disorder that causes recurrent episodes of swelling (edema) of the face or body, lasting several days. People with AAE may have swelling of the face, lips, tongue, limbs, or genitals. People with AAE can have edema of the lining of the digestive tract, which can cause abdominal pain and…
Kartagener syndrome
Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility.[1][2][3] It can be cause by changes (mutations) in many…
Robinow syndrome
Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening…
Acromelic frontonasal dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1827 Definition A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial…
Diploid-triploid mosaicism
Diploid-triploid mosaicism (DSM) is a genetic condition caused by an abnormal number of chromosomes. Symptoms of this condition may include decreased muscle tone (hypotonia), slow growth, characteristic facial features, fusion or webbing between the fingers and/or toes (syndactyly), and unusual skin pigmentation. Intellectual disabilities may be present. DSM occurs when a person has some cells with…
ACTG2-related disorders
ACTG2-related disorders are a subset of visceral myopathy (a condition where the intestine is unable to push food through but where there is not a real intestinal obstruction) with variable involvement of the bladder and intestine. Bladder involvement can range from neonatal megacystis (a bladder with increased size) and megaureter (ureter abnormally wide) at the more severe…
Mesomelia-synostoses syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2496 Definition Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion…
Epidermolysis bullosa simplex, Dowling-Meara type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79396 Definition Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration….
Pheochromocytoma
Pheochromocytomas are tumors of the adrenal glands. These glands are located right above the kidneys. Pheochromocytomas cause the adrenal glands to make too many stress hormones called epinephrines and norepinephrines. This can lead to high blood pressure and cause symptoms such as severe headaches, irritability, sweating, rapid heart rate, nausea, vomiting, weight loss, weakness, chest pain, and…
Adult-onset nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171442 Definition A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total…
Early Infantile Epileptic Encephalopathy 12
Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his…
Vein of Galen aneurysm
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins…
2q37 deletion syndrome
2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. About 100 cases have been reported worldwide. This condition is characterized by short stature, weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as…
Hyperostosis corticalis generalisata
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3416 Definition Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the…
Kanzaki disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79280 Definition A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. Epidemiology Prevalence of this disorder is not known but less than 20 cases…
Transient erythroblastopenia of childhood
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98871 Definition A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months…
Primary cutaneous amyloidosis
Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis:[1][2] Lichen amyloidosis multiple itchy, raised spots…
Anaplastic oligoastrocytoma
Anaplastic oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two…
Tyrosinemia type 1
Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene….
Sideroblastic anemia
Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed…
Hirschsprung disease type d brachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2150 Definition Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described…
Ankylosing vertebral hyperostosis with tylosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2206 Definition A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients…
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