Rare Endocrinology News
Spastic paraplegia 17
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100998DefinitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.Visit the Orphanet disease…
OPA3 defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67047 Definition 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. Epidemiology The vast majority of reported cases involved the Iraqi-Jewish population,…
Torticollis keloids cryptorchidism renal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3341 Definition Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism…
Irons Bhan syndrome
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Hemoglobin E disease
Hemoglobin E (HbE) disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms. It is inherited in an autosomal recessive manner and is caused by a mutation in the HBB gene. The mutation that causes hemoglobin…
Bangstad syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1227 Definition Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH,…
Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
Hepatocyte nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems.[1][2] The most common symptoms are associated with kidney abnormalities. Other signs and symptoms may include diabetes at a young age, genital abnormalities, and problems with pancreas and liver function. Not everyone…
Battaglia-Neri syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1948 Definition Epilepsymicrocephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once,…
Beemer Ertbruggen syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1237 Definition Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad…
McKusick Kaufman syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2473 Definition McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. Visit the Orphanet disease page…
Maternal hyperphenylalaninemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2209 Definition A rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of…
Slti Salem syndrome
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Bizarre parosteal osteochondromatous proliferation
Bizarre Parosteal Osteochondromatous Proliferation (BPOP), also known as Nora’s lesion, is an uncommon, benign bone tumor that grows on the surface of the bone. In some cases, BPOP does not cause symptoms. However, at other times, it can be painful and lead to bone deformity.[1][2] It is more commonly located on the hands and feet,…
Hyperferritinemia cataract syndrome
Hyperferritinemia cataract syndrome is a rare condition that is characterized by elevated levels of ferritin (an iron-storing protein) in the blood and early onset cataracts. Without treatment, these cataracts often become progressively worse leading to dimming and blurriness of vision. The severity of the condition can vary significantly from person to person, even among members…
Leigh syndrome
Leigh syndrome is a rare, inherited neurodegenerative condition. It usually becomes apparent in infancy, often after a viral infection. Rarely, it begins in the teenage or adult years. Signs and symptoms usually progress rapidly. Early symptoms may include poor sucking ability; loss of head control and motor skills; loss of appetite; vomiting; and seizures.[1] As…
3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) is an inherited condition in which the body is unable to breakdown the amino acid, leucine (a building block of protein). Some children with 3-MCC deficiency will begin developing signs and symptoms during infancy or early childhood; however, more recent studies suggest that many affected babies identified through newborn screening…
Jansen type metaphyseal chondrodysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33067 Definition Jansen’s metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed…
C1q deficiency
C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the…
Kawasaki disease
?xml:namespace prefix = st1 ns = “urn:schemas-microsoft-com:office:smarttags” /Kawasaki disease is a disease that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki disease begins with a fever that lasts at least five days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen…
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE syndrome) occurs when the immune system attacks the body by mistake. Symptoms usually develop within the first few months of life and may include recurrent fevers and purple colored spots on the skin particularly around the eyes. Loss of body fat, bone, and joint…
Universal acquired melanosis
Universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.[1]
Lathosterolosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 46059 Definition Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Epidemiology Only 4 cases…
Familial hypertrophic cardiomyopathy
Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient…
Catamenial pneumothorax
Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or…
Light chain deposition disease
Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While…
Lissencephaly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 48471 Definition The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of…
PGM1-CDG
PGM1-CDG is one of the many subtypes of congenital disorders of glycosylation (CDG), which are inherited diseases that affect the body’s process of adding sugar building blocks to proteins (glycosylation).[1] There are many steps in glycosylation, each of which is controlled by a different gene. The type of CDG a person has depends on which gene is involved.[2] …
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2928 Definition Polyneuropathyintellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected…
Spinocerebellar ataxia autosomal recessive 6
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Macular dystrophy, concentric annular
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Cerebral palsy
Cerebral palsy refers to a group of neurological disorders that can affect the brain and/or spinal cord. Signs and symptoms generally appear during infancy or early childhood and vary based on the type of cerebral palsy (spastic cerebral palsy, dyskinetic cerebral palsy, ataxic cerebral palsy, and mixed cerebral palsy), the severity of the condition and…
Mycobacterium Avium Complex infections
Mycobacterium avium complex (MAC) refers to infections caused by two types of bacteria: Mycobacterium avium and Mycobacterium intracellulare.[1][2] MAC bacteria do not make most people sick. However, people with immune systems that do not work well (from HIV/AIDS or certain cancers for example) or people with lung disease (such as chronic obstructive pulmonary disease (COPD) or cystic…
Northern epilepsy
Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also experience decreased visual acuity. Northern epilepsy is caused…
Marshall-Smith syndrome
Marshall-Smith syndrome (MRSHSS) is a genetic disorder in which individuals typically have advanced bone age, difficulties gaining weight (failure to thrive), unique facial features, and intellectual disability. Other signs and symptoms of this condition may include eye abnormalities, breathing difficulties, and neurological issues. Individuals may also have heart defects, an increased amount of body hair (hirsutism),…
Childhood hypophosphatasia
Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age…
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2B (MEN2B) is a genetic disease in which one or more of the endocrine glands are overactive and form a tumor (neoplasia). Common tumors that may be associated with MEN2B include medullary thyroid carcinoma (MTC) and tumors of the adrenal glands called pheochromocytomas. Other features of MEN2B can include having bumps on the lips, eyelids, and tongue. People with MEN2B…
Choroid plexus papilloma
Choroid plexus papilloma (CPP) ia a non-cancerous (benign) tumor of the choroid plexus, a network of blood vessels in the brain which surrounds the ventricles and produces the fluid surrounding the brain and spinal cord (cerebrospinal fluid, or CSF).[1] CPPs most commonly occur in children but may occur in adults.[2] Symptoms are generally due to…
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67046 Definition 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia….
Chromosome 15q duplication
Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which…
Chromosome 1q21.1 duplication syndrome
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1. Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with…
Chromosome 2q deletion
Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. 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…
Syndromic X-linked intellectual disability 7
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85274 Definition A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia,…
Ring chromosome 9
Ring chromosome 9 is a very rare chromosome abnormality in which the ends of chromosome 9 join together to form a ring shape. The resulting ring may be missing genes, or it may contain extra copies of genes. Therefore, the severity and symptoms associated with ring chromosome 9 vary from person to person. Signs and symptoms…
Myelodysplastic/myeloproliferative disease
Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and…
Periventricular heterotopia
Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during early development of the fetal brain. People with this condition typically develop recurrent seizures (epilepsy) beginning in mid-adolescence.[1] Intelligence is usually normal, but some people may have mild intellectual disability, including difficulty with reading or spelling. Less common features…
Dubin-Johnson syndrome
Dubin-Johnson syndrome (DJS) is an inherited disorder of bilirubin characterized by a buildup of bilirubin in the bloodstream (hyperbilirubinemia). When bilirubin builds up in the skin and the whites of the eyes, it can cause a yellowish color to the skin (jaundice). Individuals with DJS may also have a liver that is sometimes enlarged and tender.[1] The symptoms…
Phosphoribosylpyrophosphate synthetase superactivity
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3222 Definition Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP…
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs. There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and T lymphocytes (a type of white blood cell, that protect the…
Neuroleptic malignant syndrome
Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic…
Pinheiro Freire-Maia Miranda syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3353 Definition Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and…
Say syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2013 Definition Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic…
Preaxial polydactyly type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93336 Definition Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal…
Orofaciodigital syndrome 10
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2756 Definition Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence…
Cockayne syndrome type II
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay.[1] This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities.[2] There are…
Oral lichen planus
Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth. Severe lichen…
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)…
Rahman syndrome
Rahman syndrome is a genetic syndrome that includes mild to severe intellectual disability and an increase in height, weight, or head size (overgrowth). The overgrowth is more apparent in infancy and may lessen with time. Other symptoms may include curved fingers, eyes that may not line up in the same direction (strabismus), and facial features…
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…
Richieri Costa Pereira syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3102 Definition Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French…
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…
Spinocerebellar ataxia 25
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101111 Definition Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy….
Severe congenital neutropenia X-linked
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86788 Definition X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It…
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…
Smith McCort dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178355 Definition Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological…
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…
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