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Nager acrofacial dysostosis
Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family.[1][2] Treatment is tailored to the individual based upon their specific needs.[2] This condition is caused by mutations in the SF3B4 gene.[1] While most cases are…
Blau syndrome
Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis.[1] It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of…
48,XXYY syndrome
48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as…
Double uterus-hemivagina-renal agenesis
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Potocki-Lupski syndrome
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have some degree of developmental delay (primarily speech delay), low muscle tone, poor feeding, and failure to thrive during infancy. In addition, many individuals display…
Adiposis dolorosa
Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is…
Thanatophoric dysplasia
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or…
X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized…
Scholte syndrome
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Aromatase excess syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178345 Definition A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with preor peripubertal onset of gynecomastia, premature growth…
GNAO1 encephalopathy
GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia).[1][2] The severity of symptoms can vary. Symptoms may be…
Agnosia
Agnosia is characterized by an inability to recognize and identify objects and/or persons. Symptoms may vary, according to the area of the brain that is affected.[1] It can be limited to one sensory modality such as vision or hearing; for example, a person may have difficulty in recognizing an object as a cup or identifying a…
Lelis syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140936 Definition Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Epidemiology So far, only eight cases have been described in the literature. Clinical description Other clinical features…
Al Gazali Sabrinathan Nair syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2773 Definition Osteogenesis imperfecta-retinopathyseizuresintellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. Visit the Orphanet…
Elastoderma
Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially…
Alexander disease
Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain…
Meningoencephalocele
Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at…
Al-Gazali-Donnai-Mueller syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2153 Definition Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum,…
Temporal epilepsy, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98819 Definition A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development…
Loeys-Dietz syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284984 Definition A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and…
Familial nasal acilia
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Microphthalmia syndromic 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2470 Definition Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Epidemiology Only five cases have been reported so far, two of whom were…
Pigmented purpuric dermatosis
Pigmented purpuric dermatosis is a chronic condition characterized by reddish-brown skin lesions caused by leaky capillaries. Although they can arise on any part of the body, they are most commonly located on the lower legs.[1][2] In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own.[1] The cause of…
Antiphospholipid syndrome
Antiphospholipid syndrome (APS) is an autoimmune disorder. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures.[1] APS occurs when your body’s immune system makes antibodies that attack phospholipids. Phospholipids are a type of fat found in all living cells, including blood cells and the lining of blood vessels….
Familial visceral myopathy with external ophthalmoplegia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1876 Definition Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. Visit the Orphanet disease…
Spastic paraplegia 51
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Arachnoid cysts
Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary arachnoid cysts are congenital (present at birth), resulting from abnormal development of the…
Floating-Harbor syndrome
Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970s: Boston Floating Hospital and Harbor General Hospital in California.[1] Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, kidney problems, minor problems with hearing and vision, characteristic facial features, speech and language problems, and mild…
Infantile histiocytoid cardiomyopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137675 Definition Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. Epidemiology The prevalence is unknown but less than 100…
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1484 Definition Contractures ectodermal dysplasia cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia…
Atrial myxoma, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 615 Definition Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling…
Gaucher disease perinatal lethal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85212 Definition Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term). Epidemiology It is very rare with an incidence of less than 5% of GD cases. Clinical description This…
Auriculo-condylar syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137888 Definition A rare disorder that presents with bilateral external ear malformations (‘question mark’ ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay,…
Giant cell tumor of bone
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363976 Definition A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells),…
Autoimmune oophoritis
Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body’s immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such…
Gliomatosis cerebri
Gliomatosis cerebri is a type of malignant (cancerous) brain tumor called a glioblastoma that develops from a specific type of brain cell called an astrocyte.[1] It involves at least three sections (lobes) within the main part of the brain (cerebrum). It may also affect both sides of the cerebrum as well as the nerve cells…
Hypospadias-intellectual disability, Goldblatt type syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2261 Definition Hypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly,…
Growth hormone insensitivity with immunodeficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 181393 Definition Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS…
Palindromic rheumatism
Palindromic rheumatism (PR) is a type of recurrent arthritis characterized by episodes or “attacks” of joint inflammation, sequentially affecting one to several joint areas for hours to days.[1][2] A PR attack often occurs suddenly without any obvious triggers or warning symptoms. Any joint(s) may be affected, but finger joints, wrists, and knees are most commonly…
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.[1] Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is…
Hereditary sensorimotor neuropathy with hyperelastic skin
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280598 Definition Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and…
Biotin-thiamine-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages…
Glycoprotein VI deficiency
Glycoprotein VI deficiency is a rare condition that decreases the body’s ability to form blood clots. As a result, affected people may experience frequent nosebleeds and abnormally heavy or prolonged bleeding following minor injury or surgery. Women with the condition often have heavy or prolonged menstrual periods. Glycoprotein VI deficiency can be caused by changes…
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome (HLHS) is a heart condition present from birth (congenital heart defect). In HLHS, the heart’s left side (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped.[1] At birth, oxygen-rich blood bypasses the underdeveloped left side of the heart, going through openings between the left and right side that…
Cryptomicrotia brachydactyly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1547 Definition Cryptomicrotia brachydactyly excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch…
Hypertryptophanemia
Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body’s ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior).[1][2][3] The underlying genetic cause of hypertryptophanemia…
Fallot complex with severe mental and growth retardation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3304 Definition Fallot complex intellectual deficit growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Epidemiology To date, five patients have been reported…
Bothriocephalosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 128 Definition Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia…
Insulin-like growth factor 1 resistance to
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 73273 Definition Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal…
Intellectual disability-spasticity-ectrodactyly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1891 Definition Intellectual disabilityspasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly…
IRF6-Related disorders
IRF6-related disorders include two different disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the severe end of the spectrum. The symptoms of IRF6-related disorders vary greatly from case to case. People with…
Genoa syndrome
Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. They later develop craniosynostosis (the premature closure of one or more of…
Nasodigitoacoustic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2662 Definition A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital…
Klinefelter syndrome
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone production), small and/or undescendent…
MAN1B1-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 397941 Definition MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set…
Cardiomyopathy dilated with woolly hair and keratoderma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 65282 Definition A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Epidemiology Only a few cases have been reported, all involving patients from Ecuador, India or…
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and…
Lissencephaly 2
Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe…
Long QT syndrome
Long QT syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be acquired (noninherited) and may be brought on by…
Steroid dehydrogenase deficiency dental anomalies
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Cerebellar hypoplasia with endosteal sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85186 Definition Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four…
Rare Dermatology News