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X-linked intellectual disability-plagiocephaly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2898 Definition A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions…
Mucopolysaccharidosis type VII
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 584 Definition A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal…
Hyperinsulinism due to glutamodehydrogenase deficiency
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Bipolar disorder
Bipolar disorder is a type of mental illness that causes unusual shifts in mood, energy, activity levels, sleep and behavior. Signs and symptoms typically include alternating periods of manic episodes (joyful or excited states) and depressive episodes (very sad, hopeless or empty states). Mood episodes may also include symptoms of both mania and depression (a…
Iridocorneal endothelial syndrome
Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features:[1] Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside…
Brain-lung-thyroid syndrome
Brain-lung-thyroid syndrome is a rare movement disorder that begins in infancy with neurological disturbances, hypothyroidism, and respiratory problems.[1][2][3] It is characterized by low muscle tone (hypotonia) which evolves into benign hereditary chorea and ataxia, neonatal respiratory distress syndrome and/or interstitial lung disease, and congenital hypothyroidism.[1][2][3][4] The scope and severity of symptoms varies widely, even within…
Spastic paraplegia 18
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 209951 Definition Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability…
Immunoglobulin G deficiency
Immunoglobulin G (IgG) deficiency is a condition that involves the immune system and is characterized by a shortage of type G antibodies. There are four different subclasses of IgG: IgG1, IgG2, IgG3, and IgG4. People with IgG deficiency may have a decreased amount of one or more of the IgG subclasses or a shortage of other types…
Sillence syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3168 Definition Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot…
Insulinoma
Insulinoma is a type of pancreatic neuroendocrine tumor (pancreatic NET), which refers to a group of rare tumors that form in the hormone-making cells of the pancreas. Insulinomas, specifically, produce too much insulin, a hormone that reduces the level of sugar in the blood by helping it move into cells. As a result, people with insulinomas…
OPHN1 syndrome
OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance (cerebellum). The syndrome mainly affects males. Signs and symptoms may include intellectual disability, low muscle tone (hypotonia), developmental and cognitive delay, early-onset seizures, abnormal behavior, small or underdeveloped genitals, characteristic facial features…
Complement component 8 deficiency type 2
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Kenny-Caffey syndrome type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93324 Definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to…
KCNQ2-Related Disorders
KCNQ2-related disorders are a group of epileptic diseases that start during the first 4 weeks of a child’s life (neonatal period).[1] The groups is made up of various different diseases whose signs and symptoms vary. The conditions range from the less severe form KCNQ2-related benign familial neonatal epilepsy (KCNQ2-BFNE) to the more severe form KCNQ2-related epileptic encephalopathy…
Cantalamessa Baldini Ambrosi syndrome
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Lacrimo-auriculo-dento-digital syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2363 Definition Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary…
Congenital disorders of glycosylation
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an…
Primary hyperoxaluria type 3
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Lichen planus pemphigoides
Lichen planus pemphigoides (LPP) is a rare cross-over syndrome between lichen planus and bullous pemphigoid. Like other forms of lichen planus, it is characterized by a skin rash (shiny, flat-topped, firm bumps that are a purple color and vary from pin point size to larger than a centimeter); however, people affected by LPP subsequently develop…
Cauda equina syndrome
Cauda equina syndrome (CES) refers to a group of symptoms that occur when nerves in the cauda equina (a collection of nerve roots that spread out from the bottom of the spinal cord) become compressed or damaged. These nerves roots connect the central nervous system and peripheral nervous system. CES can lead to pain, numbness, and…
Lipedematous Scalp
Lipedematous scalp is a rare disorder characterized by thickening of the adipose subcutaneous layer (fat tissue under the scalp). When associated with lack of hair, it is known as lipedematous alopecia. The scalp is soft, spongy or thick in the forehead area (apex) and in the back (occiput) of the head. It mainly affects women….
Platelet storage pool deficiency
Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their…
Corneal dystrophy Thiel Behnke type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98960 Definition Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. Epidemiology Prevalence of this form of corneal…
Lymphedema, microcephaly and chorioretinopathy syndrome
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Cerebellar ataxia and hypogonadotropic hypogonadism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1173 Definition Cerebellar ataxiahypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty…
Short rib-polydactyly syndrome, Majewski type
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Pulmonary atresia with intact ventricular septum
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1208 Definition Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum…
Methionine adenosyltransferase deficiency
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…
Rare lichen planus
Rare lichen planus (rare LP) refers to several rare variants of lichen planus, which is a condition that affects the skin and/or mouth. The signs and symptoms vary by subtype but generally include an itchy rash. In most cases, the exact underlying cause of rare LP is unknown; however, studies suggest that it may be…
Melorheostosis with osteopoikilosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1879 Definition Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that…
Saccharopinuria
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3124 Definition Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. Epidemiology The prevalence is unknown. Clinical description The few patients with saccharopinuria have been investigated largely because of neurological problems including…
Moloney syndrome
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Sarcoidosis
Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect the organ’s structure and function. Overtime, this can lead to permanent scarring or thickening of the organ tissue (also called fibrosis). Although the…
Superior semicircular canal dehiscence syndrome
Superior semicircular canal dehiscence syndrome is a rare balance disorder characterized by auditory and/or vestibular symptoms. These might include dizziness and vertigo triggered by heavy lifting, straining, coughing or loud sounds that change the middle ear or intracranial pressure, fullness in the ear, autophony (an echo or reverberation in the ear when speaking, chewing or…
Severe congenital nemaline myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171430 Definition Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates. Epidemiology The annual incidence of NM has been…
Monogenic diabetes
The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes [1][2]. Environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. Polygenic forms of…
Chromosome 22q duplication
Chromosome 22q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22. 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…
Mulibrey Nanism
Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia;…
Spastic paraplegia 24
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101004 Definition A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild…
8q12 microduplication syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 228399 Definition The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multiorgan clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)….
Thomas syndrome
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Hidradenocarcinoma
Hidradenocarcinoma is a rare tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but can be been found on other parts of the body. This type of tumor most often…
Omphalocele cleft palate syndrome lethal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2736 Definition Lethal omphalocelecleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had…
Odontoonychodermal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2721 Definition Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. Epidemiology Less than…
Collagenous gastritis
Collagenous gastritis (CG) is a rare condition that primarily affects the digestive system. People with CG have increased buildup of collagen in the subepithelial layer of the stomach.[1][2] This condition typically affects children and young adults up to 22 years, or older adults over 35 years of age. Signs and symptoms appear to vary depending…
X-linked intellectual disability, Schimke type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85285 Definition X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys,…
Mevalonic aciduria
Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy.[1] During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small,…
5-oxoprolinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33572 Definition A very heterogeneous condition characterized by 5-oxoprolinuria. Epidemiology It has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria. Clinical description Symptoms reported in individual patients include…
Hereditary sensory and autonomic neuropathy type V
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of…
Mounier-Kuhn syndrome
Mounier-Kuhn syndrome is a lung disorder that causes the respiratory tract to dilate or enlarge. People with this condition develop frequent respiratory tract infections and recurrent cough. The condition can be diagnosed by lung function tests, bronchoscopy, and a chest CT scan.[1] The cause of Mounier-Kuhn syndrome is unknown, although cigarette smoke and air pollutants may act as irritating factors. Some cases are…
Conversion disorder
Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict.[1] Conversion disorder is thought to be caused by the body’s…
Craniofacial dyssynostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1516 Definition Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with…
Hailey-Hailey disease
Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction.[1] Hailey-Hailey…
Fraser syndrome
Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving the larynx (voice box) and trachea (windpipe);…
Hawkinsinuria
Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and…
Phyllodes tumor of the breast
Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast.[1][2] They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek).[2][3] They are most common in women in their 30s and 40s, although women of any age can be affected. These…
Human HOXA1 Syndromes
Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 syndromes have been described…
Rare Pulmonology News