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Ghosal hematodiaphyseal dysplasia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1802 Definition Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. Epidemiology The exact prevalence is unknown. GHDD has been reported in unrelated families…
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits…
Glycogen storage disease type 7
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and…
Frank Ter Haar syndrome
Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone),…
Protein C deficiency
Protein C deficiency is a disorder that increases a person’s risk to develop abnormal blood clots due to a deficiency of the Protein C, a protein in the body that prevents blood clotting.[1][2] It may be inherited or acquired. Inherited deficiency of protein C can lead to familial thrombophilia (increased tendency toward thrombosis). It is caused by…
Proteus syndrome
Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the disorder. Overgrowth becomes apparent between the ages of 6 and 18 months and becomes…
Primary basilar impression
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2285 Definition Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated…
Metaphyseal acroscyphodysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1240 Definition Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature…
Lipoid proteinosis of Urbach and Wiethe
Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin…
Beukes familial hip dysplasia
Beukes hip dysplasia (BHD) is a rare inherited skeletal dysplasia affecting the hip joint. In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height. In fact, BHD only…
Plasminogen activator inhibitor type 1 deficiency
Plasminogen activator inhibitor type 1 (PAI1) deficiency is a rare bleeding disorder that causes excessive or prolonged bleeding due to blood clots being broken down too early.[1][2][3] PAI1 is a protein in the body needed for normal blood clotting.[1] When the body does not have enough functional PAI1, the body’s ability keep blood clots intact…
Kernicterus
Kernicterus refers to brain damage that may occur when neonatal jaundice goes untreated for too long. Physiologic neonatal jaundice (which can affect about 60% of all newborn babies) is a very common condition in which the skin and whites of the eyes are yellowish in color within a few days after birth, due to high levels…
Valinemia
Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been…
Binswanger’s disease
Binswanger’s disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain.[1] Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady gait (style of walking).[2] While there is no cure,…
Bone dysplasia lethal Holmgren type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1842 Definition Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three…
Bork Stender Schmidt syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1264 Definition Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with…
Iridogoniodysgenesis type 1
Iridogoniodysgenesis type 1 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe ‘brown’ irides as…
Fibular aplasia ectrodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1118 Definition A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee,…
Bruck syndrome 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2771 Definition Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. Epidemiology Prevalence is unknown but less than 40 cases have been reported in the literature so far. Clinical description…
X-linked intellectual disability, Abidi type
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Brown syndrome
Brown syndrome is an eye disorder characterized by abnormalities in the eye’s ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with…
CAID syndrome
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Juvenile spondyloarthropathy
Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal…
Tyrosinemia type 2
Tyrosinemia type 2 is a genetic disorder in which individuals have elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition can affect the eyes, skin, and intellectual development. Symptoms of tyrosinemia type 2 often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain…
DPM1-CDG (CDG-Ie)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79322 Definition The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular…
Kuru
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Cardiomyopathy and deafness due to tRNA lysine gene mutation
A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration…
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood.[1] Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome…
Nance-Horan syndrome
Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and…
Limb-girdle muscular dystrophy type 1B
Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD1B causes muscle weakness in the lower limbs. The muscle weakness typically affects the…
Catastrophic antiphospholipid syndrome
Catastrophic antiphospholipid syndrome (CAPS) is a rare form of antiphospholipid syndrome (APS). In CAPS multiple blood clots form throughout the body over a short period of time (usually within a week). CAPS is a medical emergency, as clots can cause life-threatening multiorgan failure. The cause of CAPS is unknown. A widely accepted explanation is that…
Pustulosis palmaris et plantaris
Pustulosis palmaris et plantaris (PPP) is a rare and chronic inflammatory condition that primarily affects the palms of the hands and soles of the feet. Signs and symptoms of the condition generally develop during adulthood and include crops of pustules on one or both hands and/or feet that erupt repeatedly over time. Affected individuals may also…
SLC35A2-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 356961 Definition A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable…
Manouvrier syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1120 Definition Lung agenesis heart defect thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. Epidemiology It has been described in 7…
Centronuclear myopathy
Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype….
Gomez Lopez Hernandez syndrome
Gomez Lopez Hernandez syndrome (GLHS) is a rare condition characterized by partial scalp baldness (alopecia); numbness of the face, eyes, sinuses, and mouth (trigeminal anesthesia); and a brain abnormality called rhombencephalosynapsis. Additional symptoms vary but may include distinctive facial features, intellectual disability or other neurological problems, and craniofacial abnormalities. The cause of GLHS is poorly understood….
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose,…
Congenital fiber type disproportion
Congenital fiber type disproportion is a type of congenital myopathy. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Early signs and symptoms of congenital fiber type disproportion include floppiness, limb and facial weakness, and breathing problems.[1][2] It is a genetic disease caused by mutations in the ACTA1,…
Mannose-binding lectin protein deficiency
Mannose-binding lectin (MBL) deficiency results in a decreased amount of a specific protein (mannan-binding protein) involved in the immune system. It was originally thought that MBL deficiency resulted in an increased susceptibility to infections. However, low levels of this protein have been found in many healthy people.[1] MBL deficiency is more likely to be associated…
Pseudohypoaldosteronism type 2
Psuedohypoaldosteronism type 2 is an inborn error of metabolism.[1] It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis.[2] It is caused by mutations in the WNK1 or WNK4 gene.[2] Treatment may involve dietary restriction of sodium and hydrochlorothiazide.[3]
Melnick-Needles syndrome
Melnick-Needles syndrome is a rare disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which typically involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate),…
Chordoma
A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull.[1][2]…
Pierson syndrome
Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness.[1] Hypotonia (poor muscle tone) and movement disorders have…
Isodicentric chromosome 15 syndrome
Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the…
Chromosome 19p deletion
Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19. 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 occur…
Mondor disease
Mondor disease is a rare condition that is characterized by scarring and inflammation of the veins located just beneath the skin of the chest. The affected veins are initially red and tender and subsequently become a painless, tough, fibrous band that is accompanied by tension and retraction of the nearby skin. In most cases, the…
Muckle-Wells syndrome
Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes medications such as…
7q11.23 duplication syndrome
7q11.23 duplication syndrome is a chromosome abnormality characterized by a variety of neurological and behavioral differences.[1] It is caused by a small amount of additional (duplicated) genetic material from chromosome 7. Symptoms may include: motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures,…
Necrobiotic xanthogranuloma
Necrobiotic xanthogranuloma (NXG) is a rare, chronic form of non-Langerhans histiocytosis usually found in older adults.[1][2][3] Xanthogranulomas are lesions made of immune cells known as a histiocytes.[4] The term necrobiotic refers to the buildup of broken down collagen fibers that can be seen under a microscope.[1][2] The typical lesion is a yellow, thickened, or raised…
Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract. In PCD, the cilia are abnormal, and don’t move correctly. People with this disorder cannot clear the…
Oculopharyngodistal myopathy
Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease.[1][2] People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the…
Coats disease
Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most people begin showing symptoms in childhood. Early signs and symptoms vary but may include vision loss, “crossed eyes” (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Over time, Coats…
Cold urticaria
Cold urticaria is an allergic condition that affects the skin. Symptoms usually start in early adulthood. The most common symptom is a red, itchy rash that appears on the skin when it is exposed to the cold (e.g. cold weather or cold water). This reaction usually occurs within 5-10 minutes after exposure and can last…
Pelvic dysplasia arthrogryposis of lower limbs
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2840 Definition Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis,…
Primary orthostatic tremor
Primary orthostatic tremor (POT) is a rare, progressive movement disorder that causes unsteadiness when standing still, due to a rapid tremor affecting the legs and trunk.[1][2] The tremor is sometimes described as having “shaky legs,” and it improves or disappears when walking, sitting, or lying down.[1][2][3] This may cause people with POT to attempt to sit…
Mitochondrial complex II deficiency
Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don’t work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can…
Pineocytoma
A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches, nausea, hydrocephalus, vision…
Kaposiform Hemangioendothelioma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2122 Definition A very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. Visit the Orphanet disease page for more resources.
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. Some patients also have heart problems, diabetes insipidus, kidney problems and leukemia. It is caused by a…
Proliferating trichilemmal cyst
Proliferating trichilemmal tumor (PTT) is a benign tumor originating from the hair follicle. Although it is a benign tumor, PTT may be locally aggressive and in very rare cases the tumor may become malignant. In most cases there is only one lesion and occur in elderly women.[1][2] The tumor is not painful but sometimes they…
Psoriasis
Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. The skin on the elbows, knees, scalp, back, face, palms and feet is most often affected, but other parts of the body can be affected as well. A problem with the immune system causes psoriasis. In a process called cell turnover, skin…
Reversible cerebral vasoconstriction syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284388 Definition Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. Epidemiology…
Craniodiaphyseal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1513 Definition Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. Visit…
Encephalocraniocutaneous lipomatosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2396 Definition A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous…
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