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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…
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,…
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,…
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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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…
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…
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…
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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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…
Craniosynostosis alopecia brain defect
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Hairy elbows
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2220 Definition Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such…
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…
Tarlov cysts
Tarlov cysts are fluid-filled sacs that are usually found at the bottom of the spine (the sacrum). They grow in the roots of the nerves that grow out of the spinal cord. Most of the time, Tarlov cysts don’t cause symptoms. When symptoms occur, they may include pain in the lower back, buttocks, or stomach….
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…
Hemoglobin SC disease
Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with hemoglobin SC disease have red blood cells that are differently shaped and therefore do not…
Heart-hand syndrome, Slovenian type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168796 Definition Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac…
Hemangiopericytoma
Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body.[1]
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…
Sheehan syndrome
Sheehan syndrome affects the function of the pituitary gland. The pituitary gland makes hormones and regulates other glands and many body processes, including reproduction. The cause of Sheehan syndrome is severe blood loss during or after childbirth (postpartum hemorrhage). This leads to lack of blood flow to the front part of the pituitary gland, causing…
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…
Sertoli cell-only syndrome
Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and…
Desmoplastic small round cell tumor
Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer (sarcoma) that usually begins in the abdomen. It primarily affects children and young adults and is more common in males. It is formed by small, round cancer cells surrounded by scar-like tissue and is often found in the tissue (peritoneum) that…
Carpenter syndrome
Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs…
Shapiro syndrome
Shapiro syndrome is a rare neurological disease characterized by recurrent episodes of excessive sweating and hypothermia along with agenesis of the corpus callosum.[1][2][3] The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not…
Acroosteolysis-keloid-like lesions-premature aging syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363665 Definition A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and…
Rumination disorder
Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying…
3-Hydroxyisobutyric aciduria
3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay,…
Acute fatty liver of pregnancy
Acute fatty liver of pregnancy (AFLP) is a rare and serious complication of pregnancy. It is characterized by a build-up of fat in the liver, which can lead to liver damage. The cause of AFLP is not well understood, but genetics may play a role. Symptoms generally begin in the third trimester and may include persistent…
Spinocerebellar ataxia 20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101110 Definition Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical…
DK phocomelia syndrome
DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases…
Rheumatic Fever
Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. It is primarily diagnosed in children between the ages of 6 and 16 and can affect the heart, joints, nervous system and/or skin. Early signs and symptoms include sore throat; swollen red…
SCN1A-related seizure disorders
SCN1A-related seizure disorders is a group of diseases that includes simple febrile seizures, generalized epilepsy with febrile seizures plus, Dravet syndrome, migrating partial seizures of infancy, and intractable childhood epilepsy with generalized tonic-clonic seizures, as well as some cases of Lennox-Gastaut syndrome, West syndrome (infantile spasms) and vaccine-related encephalopathy and seizures.[1][2] Signs and symptoms can vary, even among…
Meacham Winn Culler syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3097 Definition Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Epidemiology Less than 15 patients have been reported worldwide. Clinical description Ambiguous or female external genitalia…
Adenosylcobalamin deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 28 Definition An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and…
Splenogonadal fusion limb defects micrognatia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2063 Definition Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or…
Polycystic kidney disease
Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney…
Spastic paraplegia 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100993 Definition A pure form of hereditary spastic paraplegia characterized by a childhoodto adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and…
Advanced sleep phase syndrome, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 164736 Definition Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions. Visit the Orphanet disease page…
Early-onset myopathy, areflexia, respiratory distress and dysphagia
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Dysgnathia complex
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Strongyloidiasis
Strongyloidiasis is a parasitic disease caused by the roundworm Strongyloides stercoralis (S. stercoralis).[1][2] People catch the infection when they come in contact with soil contaminated with the worms.[2] While there are often no symptoms, abdominal pain, cough, diarrhea, rash, unintentional weight loss and vomiting may occur. The infection is treated with anti-worm medications such as ivermectin.[2] Strongyloidiasis is found…
Malignant eccrine spiradenoma
Malignant eccrine spiradenoma is a type of tumor that develops from a sweat gland in the skin. It starts as a rapidly-growing bump on the head or abdomen, and may cause tenderness, redness, or an open wound.[1] The exact cause of malignant eccrine spiradenoma is unknown, though it is thought that sun exposure or problems with the…
Syringoma
Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes, but may also appear elsewhere on the face, in the armpits, umbilicus, upper chest, and genitalia.[1] They arise from the sweat ducts and may occur suddenly in crops or multiples.[2][3] There are 4 types of syringoma:…
Albinism ocular late onset sensorineural deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1000 Definition Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness…
Empty sella syndrome
Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland.[1] There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and…
Urea cycle disorders
A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound…
Fuchs endothelial corneal dystrophy
Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells…
Anti-plasmin deficiency, congenital
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Ulcerative proctitis
Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms,…
Epithelioid sarcoma
Epithelioid sarcoma (ES) is a rare cancerous tumor that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It can also occur elsewhere in the body. ES usually begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the…
Ameloonychohypohidrotic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1028 Definition A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and…
Waardenburg syndrome type 2
Waardenburg syndrome type 2 (WS2) is a type of Waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin. WS2 differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes).[1][2] Sensorineural hearing loss occurs…
Esophageal cancer
Esophageal cancer is a cancer of the esophagus, the hollow tube that carries foods and liquids from the throat to the stomach. Symptoms that may develop as the cancer grows include heartburn, pain when swallowing, difficulty swallowing, a hoarse voice, a cough that does not go away, weight loss, and coughing up blood.[1][2] The exact cause…
Facial onset sensory and motor neuronopathy
Facial onset sensory and motor neuronopathy (FOSMN) is a rare and slowly progressive motor neuron disorder. Affected people initially experience facial tingling and numbness which eventually spread to the scalp, neck, upper trunk and upper limbs. These sensory abnormalities are later followed by the onset of motor symptoms such as cramps, muscle twitches, difficulty swallowing,…
Ancylostomiasis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 78 Definition A hookworm infection caused primarily by the species Ancylostoma duodenale or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the…
Familial Alzheimer disease
Familial Alzheimer disease (familial AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD)…
Prinzmetal’s variant angina
Prinzmetal’s variant angina (PVA) is characterized by recurrent episodes of chest pain (angina) that usually occur when a person is at rest, between midnight and early morning. “Typical” angina, by contrast, is often triggered by physical exertion or emotional stress. Episodes of PVA can be very painful, and may last from several minutes to thirty minutes.[1][2][3]…
Tumor necrosis factor receptor-associated periodic syndrome
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary…
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1487 Definition Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may…
Familial partial lipodystrophy type Köbberling
Familial partial lipodystrophy type Köbberling is a rare subtype of early-onset familial partial lipodystrophy (FPL), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. The symptoms are similar to those seen in familial partial lipodystrophy, Dunnigan type (the most common type of FPL). However, only arms and legs have fat…
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