The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2213DefinitionHypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.EpidemiologyNine cases have been reported in the literature in seven families.Clinical descriptionSome patients have…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 156728 Definition Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat…

Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is present at birth and mainly involves the development of the eyelids. Symptoms of BPES include a narrow eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the lower eyelid (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because the eyelids cannot open…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 59303 Definition Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Epidemiology Less than ten patients (from unrelated consanguineous Moroccan families and…

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Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1275 Definition Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly….

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168544 Definition Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93972 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but since its…

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Riboflavin transporter deficiency is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Symptoms may begin from infancy to early adulthood and worsen over time.[1][2] When the condition begins in infancy, the first symptom often is breathing problems, which can be life-threatening. When it…

A pancreatic neuroendocrine tumor, also called an islet cell tumor, is a type of neuroendocrine tumor (NET) that typically arises in the pancreas. However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones.[1] It may be benign (not…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101028 Definition Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Epidemiology…

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Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3368 Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies,…

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects:[1][2][3] Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement  Areflexia: loss of reflexes …

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Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34514 Definition A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging,…

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Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85199 Definition Craniosynostosis anal anomalies porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption…

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Median arcuate ligament syndrome (MALS) is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal…

Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. In lymphocytic colitis, specifically, the tissues and lining of the colon are of normal thickness,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137867 Definition Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. Epidemiology Less than 200 cases have be reported to date, predominantly…

Cerebrospinal fluid (CSF) otorrhea is the leakage of cerebrospinal fluid (CSF) though the ear. It is a rare but very serious condition that requires rapid intervention. Symptoms include leak of clear fluid through the ear, inflammation of the membranes that cover the brain (meningitis), hearing loss, and seizures. The cause of a spinal fluid leak…

Malignant mesothelioma is a form of cancer that develops in the thin layer of tissue that surrounds the lungs, chest wall, or abdomen. Signs and symptoms of the condition can vary and often depend on which area of the body is affected. Common features include abdominal bloating, abdominal pain, chest pain, coughing, fatigue, shortness of…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 293603 Definition Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth…

Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain,…

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Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other…

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Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 264200 Definition 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth…

Syndromic microphthalmia-12 is a genetic syndrome with the main features of small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia).[1] People with this syndrome also have progressive movement disorders that cause severe global…

Chromosome 18p duplication is a rare chromosome abnormality in which there are three copies of the short (p) arm of chromosome 18 in each cell, rather than the usual two copies. The severity of the condition and the signs and symptoms depend on the size and location of the duplicated genetic material and which genes are…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83467 Definition Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis)…

3q29 microdeletion syndrome is a rare chromosome disorder. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size (microcephaly). Some babies with this condition are born with a cleft lip or cleft palate, and a few have been reported to have…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93474 Definition Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. Epidemiology Prevalence is estimated…

Chromosome 5q 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 5. 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…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261494 Definition Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. Epidemiology The prevalence is…

Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is…

PHIP-related disorder, also known as Chung-Jansen syndrome, is a rare condition caused by a change in the pleckstrin homology domain-interacting protein (PHIP) gene. The most common signs and symptoms, include mild to severe learning problems, behavior problems, and a tendency toward being overweight.[1][2] PHIP-related disorder is an autosomal dominant condition. This means that a person…

Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into…

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Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of…

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Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is an infection that occurs primarily in the western Siberia regions of Omsk, Novosibirsk, Kurgan and Tyumen. People can become infected from tick bites, or from contact with the blood, feces, or urine of an infected or dead animal (most commonly a rodent who was…

Epithelial basement membrane corneal dystrophy (EBMD), also called map-dot-fingerprint dystrophy, is an eye condition that affects the cornea. The epithelium is the cornea’s outermost layer, and the basement membrane is the layer that the epithelium attaches to.[1][2] EBMD occurs when the epithelial basement membrane develops abnormally, resulting in folds in the tissue. It is sometimes…

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Congenital vertical talus, sometimes called “rocker-bottom foot,” is a rare birth defect of the foot in which the talus bone has formed in the wrong position and other foot bones have shifted on top of it. As a result, the front of the foot points up and the bottom of the foot is stiff and…

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Developmental prosopagnosia is a lifelong condition that impairs a person’s ability to recognize faces, in the absence of sensory visual problems and intellectual impairment.[1] People with this condition have normal intelligence and memory, typical low-level vision, and no history of brain injury. They typically learn to use non-face cues including voice, walking style (gait) and…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99791 Definition Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition. Epidemiology Prevalence of DD-II is not known….

Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a “blood-thinning” medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2462 Definition Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Visit the Orphanet disease page for more resources.

Simple cryoglobulinemia occurs when the body makes an abnormal immune system protein called a cryoglobulin. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. If symptoms occur, they may…

Ankyloblepharon-ectodermal defectscleft lip/palate syndrome (AEC syndrome)  is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and…

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X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease. It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1562 Definition Dacryocystitis osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic…

HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy.[1] It is named for 3 features of the condition: Hemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery.[2] A wide range of non-specific symptoms…

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SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the…

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Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals.[1][2][3] Both environmental and genetic factors are thought to predispose an individual to developing the condition.[3] Treatment…

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Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high…

Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. “Acral” refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs.[1][2] The peeling is usually present from birth, but can appear…

A VIPoma is a rare cancer caused by a type of pancreatic neuroendocrine tumor, which is tumor that arises from cells that produce hormones allowing the tumor itself to produce hormones. A VIPoma secretes vasoactive intestinal peptide (VIP), a hormone that stimulates the secretion (and inhibits the absorption) of sodium, chloride, potassium and water within the small…

Gianotti Crosti syndrome (GCS) is a rare childhood skin condition characterized by a papular rash with blisters on the skin of the legs, buttocks, and arms. It typically affects children between 9 months and 9 years of age. Skin lesions typically last at least 10 days and often last for several weeks. The lesions are…

Mal de debarquement syndrome is a neurological disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189427 Definition A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98834 Definition A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater…

Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonic-clonic seizures. Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures…

Duplication of urethra is a very rare condition where there is an extra urethra, instead of the normal one. Urethral duplications can be classified into three types: incomplete urethral duplication (type 1), complete urethral duplication (type 2), and urethral duplication as a result of two bladdersThe urethra is the tube that connects the urinary bladder to the genitals for the removal…

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal…

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