Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which…

1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.  Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with…

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Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. 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…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85274 Definition A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia,…

Ring chromosome 9 is a very rare chromosome abnormality in which the ends of chromosome 9 join together to form a ring shape. The resulting ring may be missing genes, or it may contain extra copies of genes. Therefore, the severity and symptoms associated with ring chromosome 9 vary from person to person. Signs and symptoms…

Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and…

Dubin-Johnson syndrome (DJS) is an inherited disorder of bilirubin characterized by a buildup of bilirubin in the bloodstream (hyperbilirubinemia). When bilirubin builds up in the skin and the whites of the eyes, it can cause a yellowish color to the skin (jaundice). Individuals with DJS may also have a liver that is sometimes enlarged and tender.[1] The symptoms…

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Combined immunodeficiency with skin granulomas is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs. There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and  T lymphocytes (a type of white blood cell, that protect the…

Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2013 Definition Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2756 Definition Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence…

Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay.[1] This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities.[2] There are…

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Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth. Severe lichen…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171695 Definition Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity)…

Paraneoplastic neurologic disorders are a group of rare degenerative conditions that are triggered by a person’s immune system response to a cancerous tumor. Researchers believe these disorders occur when cancer-fighting antibodies or white blood cells known as T cells mistakenly attack normal cells in the nervous system. Paraneoplastic neurologic disorders typically develop after mid-adulthood and are most…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2971 Definition Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in…

Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and symptoms vary…

Milroy disease affects the lymphatic system and can lead to swelling (lymphedema) of the legs and feet. Prior to birth, symptoms of Milroy disease may include fluid buildup in the legs and feet and sometimes, within the body (nonimmune hydrops). After birth, symptoms may include swelling of the lower limbs, a buildup of fluid in…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2891 Definition Pili tortidevelopmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93338 Definition Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad,…

De Barsy syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity. The specific symptoms and the severity of De Barsy syndrome can vary greatly. Features that may be seen include eye…

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Proliferative verrucous leukoplakia (PVL) is a rare type of oral leukoplakia, where white patches that have a high risk of becoming cancerous develop inside the mouth. It mainly involves the lining inside of the cheeks (buccal mucosa) and tongue. It starts as a white plaque of thickened skin (hyperkeratosis) that eventually spreads and forms rough,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1798 Definition Stanescu type dysostosis is a rare form of osteosclerosis. Epidemiology So far it has been described in around 30 patients from three families. Clinical description It is characterized by craniofacial dysostosis with a…

Pulmonary sequestration is a rare congenital (present from birth) malformation where non-functioning lung tissue is separated from the rest of the lung and supplied with blood from an unusual source, often an artery from systemic circulation.[1][2][3][4] Pulmonary sequestrations may be defined as intralobular or extralobular, depending on their location.[2][3][4] Symptoms may include a chronic or recurrent cough, respiratory distress or lung infection.[3] Treatment depends on…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 529 Definition Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2674 Definition Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects. Epidemiology The syndrome has been described in a single Greek Cypriot…

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A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended…

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Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles…

Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infancy or early childhood. Deafness and myopia…

Schwartz Jampel syndrome (SJS) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle stiffness and weakness; joint deformities that affect mobility (contractures); short stature; small “fixed” facial features; and eye abnormalities.[1] Previously, SJS was divided into types 1 and 2. SJS type 2 (also refereed to as neonatal SJS) is now…

Selective IgM deficiency (SIgMD) is a rare immune disorder in which a person has no immunoglobulin M (IgM) antibodies, or too little IgM, with normal levels of IgG and IgA antibodies.[1][2] IgM is the first antibody the immune system makes to fight a new infection.[3] Therefore, when a person does not have enough IgM, the body…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 420561 Definition Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic…

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Acanthosis nigricans (AN) is a skin disorder in which there is darker, thick, velvety skin in body folds and creases. This condition usually appears slowly and doesn’t cause any symptoms other than skin changes. Eventually, dark, velvety skin with very visible markings and creases appears in the armpits, groin and neck folds, and over the…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99015 Definition A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1660 Definition Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so…

Spitz nevus are non-cancerous skin lesions that tend to be dome-shaped, red, reddish-brown or dark colored. They usually develop on the face or limbs of young children.[1] They tend to grow quickly initially, but then stabilize or even disappear after a period of time.[1] Spitz nevi can be very difficult to distinguish from melanoma, as a result treatment tends to involve…

Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) is a rare condition caused by a change in the DexH-box helicase 30 (DHX30) gene. The most common signs and symptoms are severe intellectual, speech and walking impairment. Infants with the disorder have low muscle tone, delayed mental and motor skills, and problems feeding. Many children…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 454 Definition A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various…

Panuveitis is inflammation of all layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. These make up the middle layer of the eye.[1] The condition can also affect the lens, retina, optic nerve, and vitreous, causing reduced vision or blindness.[2] Signs and symptoms may include eye redness and pain;…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 40 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with…

TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation).[1] Signs and symptoms of TEMPI syndrome have appeared…

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Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system, muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control. Symptoms progress to seizures, blindness, inability to move voluntarily and difficulty eating solids or swallowing liquids. This condition is caused by changes…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2947 Definition Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 41 Definition A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. Clinical description The first manifestations of the disease generally appear during early childhood. Etiology…

Ameloblastoma is a rare, noncancerous (benign) tumor that typically develops in the jaw near the molars. It originates in the cells that form the enamel that protects your teeth. The condition most often occurs in adults in their 30s and 40s, though it can occur at any age. In many cases, the first sign is…

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Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4’10” or shorter.[1][2] Dwarfism can and most often does occur in families where both parents are of average height.[3] It can be caused by any one of more than 300 conditions, most of which are genetic. The most common…

Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness.[1][2] Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron’s papules and heliotrope eyelids.[2][3][4] Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.[2][3] While patients with amyopathic dermatomyositis…

WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts; (H) = hypogammaglobulinemia; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. In later childhood, individuals develop…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98811 Definition Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. Epidemiology The prevalence is unknown but…

Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear…

Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body’s surface.[1][2][3] Though it is not a common feature of this type, scarring may occur. There…

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Eccrine porocarcinoma is a rare type of skin cancer that may occur by chance or may develop from a benign (non-cancerous) skin tumor. They affect the eccrine sweat glands, which are the major sweat glands of the body. Eccrine porocarcinoma usually are found in adults older than 60 and appear as a single red elevated…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79148 Definition A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups…

Pseudobulbar affect (PBA) is a condition characterized by episodes of sudden, uncontrollable and inappropriate episodes of crying or laughing.[1][2] The condition can be embarrassing and disruptive to daily life.[2] It typically occurs in people with certain neurological conditions or injuries that affect the way the brain controls emotion.[2] It is common in stroke survivors and people with conditions such…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 266 Definition A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria….

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1825 Definition Epiphyseal dysplasiahearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal…

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Chagas disease is caused by the parasite, Trypanosoma cruzi. The triatomine bug, which can carry the parasite, most often bites a person’s face and therefore is more commonly known as the “kissing bug”. When a triatomine bug infected with Trypanosoma cruzi bites, it can leave behind infected waste which can be spread into the person’s eyes, nose, or a…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1778 Definition Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 675 Definition A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. Epidemiology The annual incidence is estimated at around 1/50,000 births,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1909 Definition Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70590 Definition Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages….

GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream (lactic acidosis) and amino acids in the…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1130 Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe…

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