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Pallidopyramidal syndrome
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
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…
Primary central nervous system lymphoma
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
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…
De Barsy syndrome
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…
Craniofacial dysostosis with diaphyseal hyperplasia
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…
Hyperinsulinism-hyperammonemia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35878 Definition Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of…
Sickle beta thalassemia
Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change (mutation) in each copy of their HBB gene: one that causes red blood cells to form a “sickle” or crescent…
Cyprus facial neuromusculoskeletal syndrome
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…
Heart-hand syndrome, Spanish type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1342 Definition Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus,…
Hematohidrosis
Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing blood from other skin surfaces. The episodes are usually self-limiting. In some cases, the fluid appears to be blood tinged, while others resemble…
Deafness and myopia syndrome
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…
Acquired amegakaryocytic thrombocytopenia
Acquired amegakaryocytic thrombocytopenia is a rare blood disorder that causes severe thrombocytopenia with no other blood abnormalities. It is so named because the level of large bone marrow cells that produce platelets, called megakaryocytes, are significantly lower or absent.[1][2] Signs and symptoms of the condition include prolonged bleeding; easy bruising; rash (pinpoint red spots called…
Acalvaria
Primary acalvaria is an extremely rare malformation characterized by the absence of the flat skull bones of the brain, dura mater, and scalp muscles. The skull base and facial features are fully formed and usually appear normal.[1][2][3] The cause of acalvaria is still unknown.[1] Acalvaria can be distinguished from anencephaly, the most common differential diagnosis, by the presence of a layer of…
Dermoodontodysplasia
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…
Neurodevelopmental disorder with severe motor impairment and absent language
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…
Pernicious anemia
Biermer’s disease, also called acquired pernicious anemia, is a condition in which the body is unable to properly utilize vitamin B12. Because vitamin B12 is essential for the formation of red blood cells, this condition is primarily characterized by anemia (too few red blood cells). Affected people may also experience gastrointestinal issues and neurological abnormalities…
Panuveitis
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;…
Acromicric dysplasia
Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement and hip dislocations. Acromicric dysplasia does not affect intelligence or learning. Acromicric dysplasia is caused by genetic variants in the FBN1 gene or the LTBP3…
Aminoacylase 1 deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137754 Definition An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. Epidemiology Prevalence is unknown but less than 20 cases have been reported in the…
Dyschromatosis symmetrica hereditaria 1
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…
Dwarfism
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…
Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated “s” or “C” shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnormal spinal curve is stable;…
Paroxysmal exertion-induced dyskinesia
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…
Autosomal dominant neuronal ceroid lipofuscinosis 4B
Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and…
Epidermolysis bullosa simplex, generalized
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…
Eccrine porocarcinoma
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…
Xia-Gibbs syndrome
Xia-Gibbs syndrome is a rare disorder of intellectual disability.[1][2][3] People with this syndrome usually present with developmental delay (especially delays in speech), low muscule tone (hypotonia), failure to thrive, mildly unusual facial features (broad forehead, widely-spaced eyes (hypertelorism), big and low-set ears, flat nasal bridge, and thin upper lip), and breathing difficulties when sleeping (sleep…
Elastosis perforans serpiginosa
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…
Microcephaly-albinism-digital anomalies syndrome
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….
Pseudobulbar affect
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…
Subacute cerebellar degeneration
Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum).[1] Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration).[2]…
Beta ketothiolase deficiency
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body’s ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 and 24 months. Affected children experience…
Epiphyseal dysplasia hearing loss dysmorphism
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…
Amaurosis congenita cone-rod type with congenital hypertrichosis
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Seaver Cassidy syndrome
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…
Andersen-Tawil syndrome
Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. About 60% of cases of Andersen-Tawil syndrome are caused by…
Vasculitis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52759 Definition Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giantcell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis…
Pulmonary venous return anomaly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3090 Definition A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading…
Anterior segment dysgenesis
Anterior segment dysgenesis (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea, iris, ciliary body, and lens. The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and some types may also be associated…
Spastic paraplegia neuropathy poikiloderma
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Loeys-Dietz syndrome
Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual…
GRACILE syndrome
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…
Trochlea of the humerus aplasia of
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Autosomal recessive hyper IgE syndrome
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported…
Fitzsimmons syndrome
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O Donnell Pappas syndrome
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Atypical Werner syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79474 Definition An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged…
Hereditary geniospasm
Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with…
Tourette syndrome
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…
Phocomelia ectrodactyly deafness sinus arrhythmia
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PIK3CA-related overgrowth spectrum
PIK3CA-related overgrowth spectrum (PROS) is a group of rare disorders that cause overgrowth of parts of the body, due to mutations in the PIK3CA gene. Specific disorders in this spectrum include:[1][2][3][4] Fibroadipose hyperplasia (also called fibroadipose overgrowth) CLOVES syndrome Megalencephaly-capillary malformation syndrome (MCAP syndrome) Hemihyperplasia‐multiple lipomatosis syndrome (HHML syndrome) Hemimegalencephaly Facial infiltrating lipomatosis (a congenital disorder that causes overgrowth…
Immunodeficiency with thymoma
Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray.[1][2][3] Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis.[2][3] While the cause of Good…
Troyer syndrome
Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia.[1][2] Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature.[2][3][1]…
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which…
Hepatic lipase deficiency
Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase…
Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).[1] Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the…
Hereditary hemorrhagic telangiectasia type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 774 Definition An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations. Epidemiology The prevalence is approximately 1/6,000 Clinical description The most common clinical signs of hereditary hemorrhagic telangiectasia (HHT) include recurrent…
Pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea),…
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85182 Definition Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous…
Pseudotrisomy 13 syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2166 Definition Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term). Epidemiology Incidence is unknown. Clinical description Dysmorphic features…
Epilepsy, benign occipital
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 25968 Definition Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment…
Roifman syndrome
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Ochoa syndrome
Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination.[1] People with this condition have a characteristic frown-like facial expression when they try to smile or laugh, often described as “inversion” of facial expression. Urinary tract problems may include the inability to control urination (incontinence), inability to completely empty…
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