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Horner’s syndrome
Horner’s syndrome is a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face).[1][2] It is caused by damage to the sympathetic nerves of the face. The underlying causes of Horner’s syndrome vary greatly and may include a tumor, stroke, injury, or underlying disease…
Night blindness-skeletal anomalies-dysmorphism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1390 Definition This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). Epidemiology It has been described in two brothers. Clinical…
Morgagni-Stewart-Morel syndrome
Morgagni-Stewart-Morel (MSM) syndrome is a disorder characterized by thickening of the frontal bone of the skull (hyperostosis frontalis interna), as well as obesity and excessive hair growth (hypertrichosis).[1] Other signs and symptoms may include seizures, headaches, diabetes insipidus, and sex gland disturbances.[2] The cause of Morgagni-Stewart-Morel syndrome is not fully understood. Some instances of dominant inheritance have…
Ring dermoid of cornea
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91481 Definition Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations…
Hypomandibular faciocranial dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1790 Definition Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis,…
IRVAN syndrome
IRVAN syndrome is an acronym for “idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome,” a condition that primarily affects the eyes. Although this condition can occur in people of all ages, it is most commonly diagnosed in the third or fourth decade of life.[1][2] The severity of the condition varies from person to person with some affected people experiencing…
Macrozoospermia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137893 Definition Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular…
Familial breast cancer
Familial breast cancer is a cluster of breast cancer within a family. Most cases of breast cancer occur sporadically in people with little to no family history of the condition. Approximately 5-10% of breast cancer is considered “hereditary” and is thought to be caused by an inherited predisposition to breast cancer that is passed down…
Intraneural perineurioma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100003 Definition Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or…
Orofaciodigital syndrome 6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2754 Definition Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS…
C1q nephropathy
C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy,…
KBG syndrome
KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss,…
Rozin Hertz Goodman syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1323 Definition Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched…
Pyruvate dehydrogenase phosphatase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79246 Definition Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period. Epidemiology Prevalence is unknown but this form of…
Laurence-Moon syndrome
Laurence-Moon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms vary but may include cerebellar ataxia; eye abnormalities (primarily affecting the choroid and retina); peripheral neuropathy; spastic paraplegia (progressive weakness and stiffness of the legs); intellectual disability; congenital (from birth) or childhood hypopituitarism; and short stature. Laurence-Moon syndrome…
Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3238 Definition Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in…
Obesity due to congenital leptin deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 66628 Definition Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. Epidemiology It has been described in less than 30 patients. Clinical description Patients with congenital leptin…
Limb-mammary syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 69085 Definition Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. Epidemiology Less than 50 cases have been described in the literature so far. Clinical description Clinically, the syndrome is…
Livedoid vasculopathy
Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend…
Localized lipodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79088 Definition A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic…
Macrodactyly of fingers
Macrodactyly of the hand is a rare condition in which a person’s fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited.[1] Most of the time, only one hand…
Cerebro-facio-articular syndrome
Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a rare condition that was first described in 1992. Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor muscle tone and joint hyperlaxity. Cerebro-facio-articular syndrome can be caused by changes (mutations) in the DCHS1 or FAT4…
Sneddon syndrome
Sneddon syndrome is a rare, progressive condition that affects blood vessels. It is primarily characterized by livedo reticularis (net-like patterns of discoloration on the skin) and neurological abnormalities.[1][2] Symptoms may include transient ischemic attacks (mini-strokes) and strokes; headache; dizziness; high blood pressure; and heart disease.[1][2] Reduced blood flow to the brain may cause reduced intellectual…
Hypertrichosis lanuginosa congenita
Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes.[1][2] The hair can grow to be 3 to 5 cm in length.[1] This condition appears to follow an autosomal dominant pattern…
Progressive bifocal chorioretinal atrophy
Progressive bifocal chorioretinal dystrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, and slow disease progression.[1][2] Widespread abnormalities of rod and cone function has been…
Microcephaly
Microcephaly is a rare neurological condition in which a person’s head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life.[1][2] Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental…
Jacobsen syndrome
Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment. Other features may include compulsive behavior; attention deficit-hyperactivity disorder (ADHD); congenital heart…
Persistent genital arousal disorder
Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive…
15q13.3 microduplication syndrome
15q13.3 microduplication syndrome is a rare chromosomal disorder. Our genetic information is organized in structures called chromosomes. People with 15q13.3 microduplication syndrome have an extra piece of genetic information on the long arm (q arm) of chromosome 15. Some people with this duplication do not have any medical or behavioral problems. Other people may have developmental delay, intellectual disability,…
Sitosterolemia
Sitosterolemia is a rare inherited condition in which plant sterols accumulate in the blood and tissues. Plant sterols, including sitosterol, stigmasterol, and campesterol, are fatty substances found in vegetable oils and nuts. Individuals with sitosterolemia have extremely high levels of sitosterol (30 to 100 times higher than normal), along with mildly to moderately elevated levels…
Mitochondrial trifunctional protein deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 746 Definition A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a…
Chromosome 1q41-q42 deletion syndrome
Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected.[1][2] Features may include poor feeding in infancy; developmental delay including…
Xanthoma disseminatum
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 158003 Definition A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the…
Chromosome 2q duplication
Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material 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 duplication and which genes are involved. Features that often occur in…
Multiple pterygium syndrome X-linked
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79447 Definition X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or…
Tetrasomy 9p
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3310 Definition Tetrasomy 9p is a rare autosomal anomaly characterized by preand postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia,…
Spastic paraplegia with precocious puberty
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MYH7-related scapuloperoneal myopathy
MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are…
Nonalcoholic steatohepatitis
Nonalcoholic steatohepatitis, or NASH, is a common, often “silent” liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a…
Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive, neurodegenerative disease. NIID may affect any part of the nervous system (central, peripheral, and/or autonomic), as well as various organs.[1] Signs and symptoms may begin anywhere from infancy to late adulthood, and can vary from person to person. In most cases, the disease begins in childhood.[1]…
Cleft palate lateral synechia syndrome
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Renal agenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 411709 Definition Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by…
Syndactyly
Syndactyly is a term used to describe webbed or conjoined digits (fingers or toes). It may occur as an isolated finding or may be a symptom of a genetic syndrome. There are over 300 genetic syndromes that involve syndactyly, such as Apert syndrome and Saethre-Chotzen syndrome. There are many different ways to classify or group…
Orofaciodigital syndrome 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2752 Definition Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. Epidemiology Five cases in two families have been reported (two males and three females)….
Cockayne syndrome type III
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…
Spinocerebellar ataxia 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98762 Definition Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated…
Optic atrophy 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98890 Definition Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant…
Coloboma of alar-nasal cartilages with telecanthus
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Ichthyosis vulgaris
Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely…
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the…
Tucker syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2997 Definition Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in…
Simosa cranio facial syndrome
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Windblown hand
Windblown hand is a hand deformity that is present from birth. The cause of this deformity is unknown. People with windblown hand have flexion contractures of the joints at the base of each finger that prevents normal mobility of their hand and causes their fingers to bend toward their “little” finger (i.e., ulnar drift). In…
Patterson pseudoleprechaunism syndrome
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Subcutaneous panniculitis-like T-cell lymphoma
Subcutaneous panniculitis-like Tcell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin.[1][2] Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. This is known as…
Swyer-James syndrome
Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries.[1][2] Affected individuals may…
Tracheal agenesis
Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia).[1] Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth.[2] The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated…
Copper deficiency, familial benign
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1551 Definition Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the…
Trichodental syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3351 Definition Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. Visit…
Craniosynostosis alopecia brain defect
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Viral hemorrhagic fever
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 341 Definition Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg’s disease that first occurred…
Hyperinsulinism-hyperammonemia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35878 Definition Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of…
Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead…
Proximal symphalangism
Proximal symphalangism, which is also called Cushing’s symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion…
Sickle beta thalassemia
Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change (mutation) in each copy of their HBB gene: one that causes red blood cells to form a “sickle” or crescent…
Heart-hand syndrome, Spanish type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1342 Definition Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus,…
Hematohidrosis
Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing blood from other skin surfaces. The episodes are usually self-limiting. In some cases, the fluid appears to be blood tinged, while others resemble…
Leri Weill dyschondrosteosis
Leri Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity.[1][2] Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty.[3][2] People with this condition often experience pain in…
Acquired amegakaryocytic thrombocytopenia
Acquired amegakaryocytic thrombocytopenia is a rare blood disorder that causes severe thrombocytopenia with no other blood abnormalities. It is so named because the level of large bone marrow cells that produce platelets, called megakaryocytes, are significantly lower or absent.[1][2] Signs and symptoms of the condition include prolonged bleeding; easy bruising; rash (pinpoint red spots called…
HMG CoA lyase deficiency
HMG CoA lyase deficiency is an inherited disorder in which the body cannot process a protein called leucine or make ketones. Ketones are used for energy during periods of fasting. The signs and symptoms of condition usually appear within the first year of life and include episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone…
Acalvaria
Primary acalvaria is an extremely rare malformation characterized by the absence of the flat skull bones of the brain, dura mater, and scalp muscles. The skull base and facial features are fully formed and usually appear normal.[1][2][3] The cause of acalvaria is still unknown.[1] Acalvaria can be distinguished from anencephaly, the most common differential diagnosis, by the presence of a layer of…
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