Rare Psychiatry News

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Hypotrichosis simplex

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Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all…

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Brachydactyly type C

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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…

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HMG CoA synthetase deficiency

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Convulsions, benign familial infantile, 1

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 306 Definition Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Epidemiology Although BFIE cases…

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Hordnes Engebretsen Knudtson syndrome

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Hymenolepiasis

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Bilateral generalized polymicrogyria

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Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain).[1][2][3] This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain.[1] Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat.[1][2] While the…

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Hyperinsulinism, diffuse

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Biliary hypoplasia

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POLR3-Related Leukodystrophy

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Hypotelorism cleft palate hypospadias

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2353 Definition Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. Epidemiology SRS has been…

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Meier Blumberg Imahorn syndrome

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Book syndrome

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Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a…

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Myeloid splenomegaly

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Bow hunter’s stroke

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Infantile neuroaxonal dystrophy

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Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood,…

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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2770 Definition Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous…

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Opisthorchiasis

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Bruck syndrome 2

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Intravenous leiomyomatosis

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Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle…

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Simpson-Golabi-Behmel syndrome

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Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The severity varies from very mild forms in carrier females…

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Juvenile dermatomyositis

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Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and…

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Kallmann syndrome 5

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Spondylocamptodactyly

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3180 Definition Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. Epidemiology This syndrome has been described in five members from three generations of one family. Genetic counseling…

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Knobloch syndrome

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Knobloch syndrome is characterized by severe vision problems and skull defects.[1] The most common features include extreme nearsightedness (high myopia), recurrent retinal detachment, and occipital encephalocele.[1][2] There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. Knobloch syndrome type I is caused by mutations in the COL18A1 gene. The genes associated with Knobloch syndrome…

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COG7-CDG (CDG-IIe)

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79333 Definition COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom…

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Malignant mixed Mullerian tumor

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A malignant mixed müllerian tumor (MMMT), also called a carcinosarcoma, is a type of cancer that contains two types of cancer cells carcinoma and sarcoma cells. These tumors usually develop in tissues of the female genital tract and are associated with a poor outcome. The majority of these tumors arise in the uterus, though they…

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Lethal congenital contracture syndrome 2

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137776 Definition Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the…

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Caroli disease

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Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. In addition to the symptoms of Caroli disease, people affected…

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Wellesley Carmen French syndrome

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Limb-girdle muscular dystrophy type 2H

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1878 Definition A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second…

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Keshan disease

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Lopes Gorlin syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2832 Definition Short tarsus absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Epidemiology It has been…

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Lupus nephritis

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Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus.[1] The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body.[1] This condition typically occurs in people aged 20 to 40…

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Cerebellar astrocytoma, childhood

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MOMO syndrome

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MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of the syndrome instead of macrosomia, as macrosomia has…

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Zellweger syndrome

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Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities.[1][2] Affected children also develop life-threatening problems in other organs and tissues, such…

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Ovarian carcinosarcoma

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Ovarian carcinosarcoma, also known as a malignant mixed mullerian tumor (MMMT) of the ovary, is a rare, aggressive cancer of the ovary with characteristics of two types of cancer: carcinoma and sarcoma.[1] Because women with this cancer often have no symptoms, more than half of women are diagnosed at an advanced stage.[2] When present, symptoms may include pain…

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Charcot-Marie-Tooth disease type 2B

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Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited peripheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle…

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Markel Vikkula Mulliken syndrome

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Oculo digital syndrome

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Megalocornea-intellectual disability syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2479 Definition Megalocorneaintellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing,…

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Intrahepatic cholestasis of pregnancy

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Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third trimester of pregnancy and can include…

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Neisseria meningitidis infection

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Chorioretinitis

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Microcephalic primordial dwarfism Toriello type

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2643 Definition A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. Visit…

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Omodysplasia 1

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Chromosome 17q11.2 deletion syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97685 Definition 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number…

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Spondyloepimetaphyseal dysplasia Missouri type

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93356 Definition Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae…

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Chromosome 19q duplication

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Mosaic trisomy 8

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Mosaic trisomy 8 is a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body’s cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary, but may include distinctive facial features; intellectual disability;…

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Chromosome 4p duplication

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Chromosome 4p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 4. 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…

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Multifocal choroiditis

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Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort.[1] Though the cause is unknown, multifocal…

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Chromosome 9 inversion

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Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the…

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Tubular aggregate myopathy

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Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved.[1] Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue.[1][2][3] Affected individuals may have an unusual…

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Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids

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Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a treatable inflammatory disease of the central nervous system. Specifically, it is a type of encephalomyelitis, which is a general term describing inflammation of the brain and spinal cord.[1] CLIPPERS predominantly affects the cerebellum, spinal cord, and brainstem – the part of the brain that directly…

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Neonatal severe hyperparathyroidism

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 417 Definition Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. Epidemiology The prevalence is unknown. Clinical description The clinical manifestations are early (with…

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Neuroma biliary tract

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Kuster syndrome

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Oculoauriculofrontonasal syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 398156 Definition Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia,…

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Congenital nephrotic syndrome Finnish type

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Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage…

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Oculodentodigital dysplasia dominant

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May-Thurner syndrome

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Osteoporosis oculocutaneous hypopigmentation syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2786 Definition Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. Visit the Orphanet disease page…

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Renal coloboma syndrome

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Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose…

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Ouvrier Billson syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1179 Definition Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with…

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Complex regional pain syndrome

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Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after surgery or an injury.[1] The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain…

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Richieri-Costa Guion-Almeida Cohen syndrome

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Congenital aneurysms of the great vessels

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Pseudo Pelger-Huet anomaly

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Ectopia pupillae

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Nail dysplasia, isolated congenital

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Developmental prosopagnosia

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Developmental prosopagnosia is a lifelong condition that impairs a person’s ability to recognize faces, in the absence of sensory visual problems and intellectual impairment.[1] People with this condition have normal intelligence and memory, typical low-level vision, and no history of brain injury. They typically learn to use non-face cues including voice, walking style (gait) and…

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Supranuclear ocular palsy

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Dentin dysplasia, coronal

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99791 Definition Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition. Epidemiology Prevalence of DD-II is not known….

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Warfarin sensitivity

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Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a “blood-thinning” medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to…

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Shprintzen-Goldberg craniosynostosis syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2462 Definition Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Visit the Orphanet disease page for more resources.

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Halal Setton Wang syndrome

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Simple cryoglobulinemia

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Simple cryoglobulinemia occurs when the body makes an abnormal immune system protein called a cryoglobulin. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. If symptoms occur, they may…

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Pulmonary edema of mountaineers

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Cutler Bass Romshe syndrome

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Tangier disease

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Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) the ‘good cholesterol’ in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an…

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Osteopoikilosis and dacryocystitis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1562 Definition Dacryocystitis osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic…

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Greenberg dysplasia

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Greenberg dysplasia is a very severe disorder that that affects the bones.[1] It is called a skeletal dysplasia because the bones do not develop properly. This condition is sometimes called HEM based on the main features of Hydrops fetalis, Ectopic calcifications, and “Moth-eaten” appearance of the skeleton. Greenberg dysplasia is an autosomal recessive condition caused by a mutation in the…

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Pyruvate dehydrogenase complex deficiency

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Pyruvate dehydrogenase complex (PDC) deficiency is a type of metabolic disease. This means that the body is not able to efficiently break down nutrients in food to be used for energy. Symptoms of PDC deficiency include signs of metabolic dysfunction such as extreme tiredness (lethargy), poor feeding, and rapid breathing (tachypnea). Other symptoms may include…

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Dauwerse-Peters syndrome

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Progressive hemifacial atrophy

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Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face.[1] It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg.[2][3][4] The condition may worsen for 2 to 20 years and then stabilize….

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Phosphoglycerate kinase deficiency

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 713 Definition A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. Epidemiology Phosphoglycerate kinase (PGK) deficiency prevalence is unknown but about 30 unrelated…

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Deafness progressive cataract autosomal dominant

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Ankylosis of teeth

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1077 Definition A rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. Epidemiology The prevalence is unknown. Clinical description The periodontal ligament is obliterated by a…

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Piepkorn Karp Hickok syndrome

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Intervertebral disc disease

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Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals.[1][2][3] Both environmental and genetic factors are thought to predispose an individual to developing the condition.[3] Treatment…

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Cholecystitis

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Dens in dente and palatal invaginations

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Polymorphous low-grade adenocarcinoma

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Glucocorticoid-remediable aldosteronism

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Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high…

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Acquired Von Willebrand syndrome

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Acquired von Willebrand syndrome (AVWS) is a bleeding disorder that can occur due to a variety of conditions, but is not caused by a VWF gene mutation. It is most often seen in persons over age 40 years with no prior bleeding history. This condition may result from lymphoproliferative disorders, autoimmune disorders (including systemic lupus erythrematosus, scleroderma, and antiphospholipid…

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Preauricular sinus

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Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides…

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VIPoma

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A VIPoma is a rare cancer caused by a type of pancreatic neuroendocrine tumor, which is tumor that arises from cells that produce hormones allowing the tumor itself to produce hormones. A VIPoma secretes vasoactive intestinal peptide (VIP), a hormone that stimulates the secretion (and inhibits the absorption) of sodium, chloride, potassium and water within the small…

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