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Mendelian susceptibility to mycobacterial diseases
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guérin (BCG) and environmental mycobacteria. It is characterized by severe, recurrent infections, either systemic (widespread) or localized. It has many subtypes. The most serious types are the autosomal recessive complete interferon gamma receptor 1 (IFN-gammaR1)…
Porencephaly cerebellar hypoplasia internal malformations
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IMAGe syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85173 Definition IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients…
Brachydactyly type E
Brachydactyly type E is a genetic disorder that causes some of the bones of the hands or feet to be shorter than expected. Other signs of the disorder may include having very flexible joints (hyperextensibility) in the hands and being shorter than family members who do not have the disorder (short stature).[1][2] Brachydactyly type E…
Brain dopamine-serotonin vesicular transport disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 352649 Definition A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. Epidemiology The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian…
Intestinal lymphangiectasia
Intestinal lymphangiectasia is a rare digestive disorder characterized by abnormally enlarged lymph vessels supplying the lining of the small intestine. Affected people may experience intermittent diarrhea, nausea, vomiting, swelling of the limbs and abdominal discomfort. Intestinal lymphangiectasia can be congenital (also called primary intestinal lymphangiectasia or Waldmann disease) in which case it affects children and…
Monoamine oxidase A deficiency
Monoamine oxidase A deficiency is a rare condition that is characterized by mild intellectual disability and behavioral difficulties (including aggressive and sometimes violent behaviors and autistic features). Affected people may also experience night terrors, tremor, stereotypical hand movements, and/or occasional body twitches. Signs and symptoms generally develop in childhood and the condition is seen almost…
Iodine antenatal exposure
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 238688 Definition Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may…
Weaver syndrome
Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched…
Carney complex
Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means…
MPI-CDG (CDG-Ib)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79319 Definition MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin),…
Larsen-like syndrome
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Progressive multifocal leukoencephalopathy
Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened.[1][2] The disease occurs,…
Lubinsky syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2410 Definition This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. Genetic counseling An autosomal recessive mode…
Lipoic acid biosynthesis defects
Lipoic acid biosynthesis defects are a group of conditions caused by different enzymatic deficiencies. Lipoate is a cofactor essential for important reactions in humans involving several genes (LIPT1, LIAS, DLD) which codifiy different enzymes. Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined with a defect in…
Cerebellum agenesis hydrocephaly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1397 Definition A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis…
Madelung deformity
Madelung deformity (MD) is a rare congenital (present from birth) condition in which the wrist grows abnormally and part of the radius, one of the bones of the forearms, stops growing early and is short and bowed. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump. Symptoms typically develop in midto…
Cheilitis glandularis
Cheilitis glandularis is a rare inflammatory disorder of the lip.[1] It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation.[2] Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and,…
Zunich neuroectodermal syndrome
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Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
MPPH syndrome is a disorder characterized by the presence of multiple birth defects and developmental delay. Classic signs and symptoms include polymicrogyria, megalencephaly, seizures, polydactyly, and hydrocephalus. Other features might include characteristic facial features, low muscle tone (hypotonia), and impaired vision.[1] Mutations in at least three different genes have been identified that cause MPPH including PIK3R2,…
Myelomeningocele
Myelomeningocele occurs when the spine and spinal cord do not form correctly during early development, causing a condition known as spina bifida. Myelomeningocele is the most serious form of spina bifida. It happens when parts of the spinal cord and nerves pop out through the open part of the spine. This leads to spinal cord and…
Ring chromosome 10
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1438 Definition An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic…
Chromosome 2q24 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1617 Definition 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which…
Chromosome 6p deletion
Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. 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…
Progeroid short stature with pigmented nevi
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2959 Definition Progeriashort stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat. Epidemiology Less than ten cases have been described so far. Clinical…
IgG4-related dacryoadenitis and sialadenitis
IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands).[1] In some cases, it also affects other glands or organs.[1][2] The condition is usually painless, mainly causing mouth and eye dryness, and swelling…
Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis).[1][2] Some affected…
Perlman syndrome
Perlman syndrome causes overgrowth in infancy and affects many different parts of the body. Babies with Perlman syndrome are bigger than most babies and have large heads, kidneys, and livers. In addition, they may have low muscle tone, distinctive facial features, and developmental delay. Over time, people with Perlman syndrome have an increased chance to develop Wilms…
Noonan-like syndrome with loose anagen hair
Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly…
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus),…
Craniometaphyseal dysplasia, autosomal dominant
Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia).[1][2] The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial…
Olivopontocerebellar atrophy deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2732 Definition Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested…
Collins Pope syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2412 Definition Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal…
Telangiectasia macularis eruptive perstans
Telangiectasia macularis eruptive perstans (TMEP) is a very rare skin disease. Some researchers consider it a rare subtype of cutaneous mastocytosis. The lesions of TMEP typically appear as small, irregular red spots and brown widened blood vessels on the skin (telangiectasia) mostly located on the trunk, legs, and arms in a symmetrical pattern. The palms, soles…
Ossification of the posterior longitudinal ligament of the spine
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a condition that is characterized by the calcification of the soft tissues that connect the bones of the spine, which may lead to compression of the spinal cord. Many affected people do not have any signs or symptoms, while others may experience mild pain…
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a rare disorder that affects the brain. It is part of a group of disorders known as leukodystrophies. Leukodystrophies are diseases that affect the white matter of the brain. The white matter contains nerve fibers (axons), surrounded by a type of sheath or covering…
Phenobarbital antenatal exposure
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1919 Definition A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia…
Pigment-dispersion syndrome
Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the…
Parastremmatic dwarfism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2646 Definition A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Epidemiology Only 5 cases have been described to date. Clinical description Radiographs show bowing of…
White platelet syndrome
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Partial deletion of the short arm of chromosome 3
Chromosome 3p partial deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 3 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of…
Pontine tegmental cap dysplasia
Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.[1] Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The severity of the medical problems varies among patients. Some…
Congenital tracheomalacia
Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open.[1] The trachea can collapse when breathing out. Symptoms vary from mild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Symptoms typically worsen…
Pudendal Neuralgia
Pudendal neuralgia occurs when the pudendal nerve is injured, irritated, or compressed. Symptoms include burning pain (often unilateral), tingling, or numbness in any of the following areas: buttocks, genitals, or perineum (area between the buttocks and genitals). Symptoms are typically present when a person is sitting but often go away when the person is standing…
Congenital Zika syndrome
Congenital Zika syndrome is caused by exposure to the Zika virus before birth. This may happen if the mother is infected from a mosquito bite or through sexual contact with an affected partner. Signs and symptoms of congenital Zika syndrome include birth defects (like small head size) and other health and development problems.[1][2] Zika virus outbreaks are…
Curry Jones syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1553 Definition Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands…
Spastic paraplegia 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2466 Definition A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of…
Halal Setton Wang syndrome
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Salivary gland cancer, adult
Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of…
Spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. Other features can include cleft palate,…
Cutis verticis gyrata
Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain.[1][2] It occurs more commonly in males, and most commonly develops after puberty, but before age 30. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric…
Tangier disease
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…
D-2-hydroxyglutaric aciduria
D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria…
Greenberg dysplasia
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…
Progressive hemifacial atrophy
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….
Spastic paraplegia 29
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101009 Definition A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to…
Ankylosis of teeth
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…
Scurvy
Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include…
Radioulnar synostosis-developmental delay-hypotonia syndrome
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Doyne honeycomb retinal dystrophy
Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early…
Acquired Von Willebrand syndrome
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…
Ribbing disease
Ribbing disease is a rare disease that causes bony growths to develop on the long bones. These bony growths most commonly affect the long bones of the lower legs, such as the thigh bone (femur) and shin bone (tibia) but can also affect the long bones of the arms. Signs and symptoms of the disease…
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