SeSAME syndrome is characterized by Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).[1] Seizures tend…

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Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not…

Eosinophilic gastroenteritis occurs when certain white blood cells known as eosinophils get into the digestive tract and cause damage. Symptoms of eosinophilic gastroenteritis usually start in adulthood and may include stomach pain, nausea, vomiting, and the inability to absorb nutrients from food. Sometimes, a blockage in the intestines occurs. In most people, symptoms occur from time…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2513 Definition Microcephaly albinism digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe….

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166063 Definition Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an…

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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…

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Familial transthyretin amyloidosis (FTA) is a rare inherited condition characterized by abnormal build-up of a protein called amyloid in the body’s organs and tissues.[1][2] Symptoms start in adulthood and get worse over time. Signs and symptoms depend on where the amyloid protein is building up.[1] Amyloid build-up in the nerves of the peripheral nervous system…

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…

Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus.[1][2] Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens).[2] In PAIS,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91498 Definition Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive…

Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain, overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep veins in the limbs. The overgrowth of bones and soft…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1487 Definition Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may…

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Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term “Goodpasture syndrome” for the findings of glomerulonephritis and pulmonary hemorrhage and the term “Goodpasture disease” for those patients with glomerulonephritis, pulmonary…

Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood,…

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Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1] It is characterized by the presence of Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.[1] Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome…

Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2820 Definition Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions…

Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips, giving the appearance of a “whistling face”. In addition, they may…

Autism spectrum disorder (ASD) is a condition that affects the development of social and communication skills. It includes features of four conditions which were once thought to be separate syndromes autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder. Signs and symptoms often become apparent in the first 2-3 years of life and…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85297 Definition X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2067 Definition A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations. Epidemiology Approximately 38 patients have been reported in literature since the first description in 1947….

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2623 Definition A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy”). Epidemiology Fewer than 30 cases have been reported to date. Clinical…

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Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics.[1][2] Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885.[2] A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small…

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Glossopharyngeal neuralgia is a disorder that is associated with repeated episodes of severe pain in the tongue, throat, ear, and tonsils. These areas are all connected to the ninth cranial nerve, also called the glossopharyngeal nerve. Episodes of pain may last from a few seconds to a few minutes and usually occur on one side…

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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,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100986 Definition Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3217 Definition A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations…

Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can…

Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. Symptoms usually begin in infancy and include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people with HEP may lose skin, bone or develop scarring in sun-exposed areas. HEP is caused by a…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139552 Definition A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and…

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Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the…

Hypomyelination and congenital cataract is a very rare disease characterized by cloudy coverings of the eye that are present at birth (congenital cataracts) and neurologic impairment that becomes apparent after the first year of life. The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk. Signs…

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Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; however it has also been reported in cognitively normal individuals and is thus thought to be begnin. Hydroxyprolinemia…

D-bifunctional protein deficiency (DBP deficiency) is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition never gain…

Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1252 Definition Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Epidemiology Blepharonasofacial syndrome has been reported in 3…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2278 Definition Ichthyosisintellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Visit the…

Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli).[1] BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry…

Thrombotic thrombocytopenic purpura (TTP), acquired is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 163937 Definition Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar…

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IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms.[1] People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 455 Definition Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth. Epidemiology Less than 30 families have been reported in…

Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).[1] Symptoms usually begin with hoarseness and/or a change in the voice. Some people may experience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway.[2] The tumors may vary in size and grow very quickly. They often…

Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time).[1][2] Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well…

?xml:namespace prefix = st1 ns = “urn:schemas-microsoft-com:office:smarttags” /Kawasaki disease is a disease that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki disease begins with a fever that lasts at least five days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79330 Definition MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures,…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 230851 Definition Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve…

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Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.[1] The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure…

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Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck.[1][2] The signs and symptoms of this condition may include abnormalities of…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 66631 Definition CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Epidemiology It has been described so far in seven affected individuals (four…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2246 Definition Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate…

Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during early development of the fetal brain. People with this condition typically develop recurrent seizures (epilepsy) beginning in mid-adolescence.[1] Intelligence is usually normal, but some people may have mild intellectual disability, including difficulty with reading or spelling. Less common features…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94090 Definition Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright’s hereditary…

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Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E…

Methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in an isolated increase of the amino acid methionine in the blood (hypermethioninemia). In most cases there are no symptoms and it is usually a benign condition, but some patients may present with neurologic or developmental problems and/or bad breath. It is caused by mutations…

Childhood acute lymphoblastic leukemia (ALL) is a type of cancer of the blood and bone marrow, and the most common type of cancer in children. In children with this condition, too many stem cells made by the bone marrow become lymphoblasts, B lymphocytes, or T lymphocytes. These cells do not function normally and have trouble…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1313 Definition This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven…

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Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from life threatening to mild. Signs and symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly),…

Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra (duplicated) copy of genetic material on the long arm (q) of chromosome 13. 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…