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Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
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Prothrombin deficiency
Prothrombin (or factor II) deficiency is a blood disorder that affects the ability of the blood to clot properly. Symptoms of the deficiency include prolonged bleeding, especially after an injury or after surgery. Women with prothrombin deficiency may have heavy menstrual bleeding. The severity of the disease can vary, with some people experiencing severe bleeding…
Macroglossia
Macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. It usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired. In rare cases, it is an isolated, congenital feature.[1] Symptoms associated with macroglossia may include drooling; speech impairment; difficulty eating; stridor; snoring;…
Cortisone reductase deficiency
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Halal syndrome
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Van Benthem-Driessen-Hanveld syndrome
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Harlequin ichthyosis
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.[1] The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating.[2] Mutations in the ABCA12 gene cause harlequin ichthyosis.[1] This condition is inherited in an autosomal recessive…
Cutaneous-skeletal hypophosphatemia syndrome
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare condition that primarily affects the bones and skin. People with this condition have skeletal dysplasia and a variety of skin abnormalities such as epidermal nevi (an overgrowth of the top layer of skin) and moles. Other common features include hypophosphatemia which can be associated with bone pain, limb…
Hemoglobin Zurich
Hemoglobin (Hb) Zurich is an inherited blood disorder. People with Hb Zurich have an abnormal form of Hb, a red blood cell (RBC) protein that binds to oxygen in the lungs. This abnormal Hb more readily binds to carbon monoxide (producing carboxyhemoglobin or COHb).[1] Normally the level of COHb is less than 1-2% in adults….
Renal hypouricemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94088 Definition Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced…
Y chromosome infertility
Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man’s body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly….
Hemihypertrophy
Hemihypertrophy is a condition in which there is excessive (hyper) growth (trophy) of only one side (hemi) of the body, the right side or the left side. Overgrowth may affect only one part of the body, such as a leg or arm, or several different areas of the body. It may not be apparent at…
Dehydrated hereditary stomatocytosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3202 Definition Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate…
Accessory pancreas
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 674 Definition A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely,…
Telangiectasia macularis eruptive perstans
Telangiectasia macularis eruptive perstans (TMEP) is a very rare skin disease. Some researchers consider it a rare subtype of cutaneous mastocytosis. The lesions of TMEP typically appear as small, irregular red spots and brown widened blood vessels on the skin (telangiectasia) mostly located on the trunk, legs, and arms in a symmetrical pattern. The palms, soles…
Dent disease
Dent disease is a chronic kidney disease that primarily affects males. While symptoms and severity vary, they usually begin in childhood and worsen over time. The most common feature of Dent disease is proteinuria (protein in the urine). Other common features include excess calcium in the urine (hypercalciuria); calcium deposits in the kidneys (nephrocalcinosis); and kidney…
Phenobarbital antenatal exposure
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1919 Definition A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia…
ADULT syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 978 Definition A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Visit the Orphanet…
Pigment-dispersion syndrome
Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the…
White platelet syndrome
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Pontine tegmental cap dysplasia
Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.[1] Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The severity of the medical problems varies among patients. Some…
Hereditary keratitis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2334 Definition Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. Epidemiology The prevalence is unknown. Clinical description The presence of macular hypoplasia and iris anomalies in some…
Adenosine Deaminase 2 deficiency
Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). [1][2] Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain,…
Pudendal Neuralgia
Pudendal neuralgia occurs when the pudendal nerve is injured, irritated, or compressed. Symptoms include burning pain (often unilateral), tingling, or numbness in any of the following areas: buttocks, genitals, or perineum (area between the buttocks and genitals). Symptoms are typically present when a person is sitting but often go away when the person is standing…
Spinal muscular atrophy with respiratory distress 1
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Bleeding disorder due to P2RY12 defect
Bleeding disorder due to P2RY12 defect affects the way the platelets function. Platelets are important for helping the blood to clot. Symptoms of a bleeding disorder due to P2RY12 defect include frequent nose bleeds, easy bruising, and excessive bleeding after surgery or an accident. These symptoms can vary from person to person. This condition is…
Autosomal dominant tubulointerstitial kidney disease due to REN mutations
Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is an inherited disorder that causes anemia, mildly low blood pressure, and an increased chance to develop kidney failure in childhood. In the teenage years, patients may develop a painful type of arthritis called gout. As an adult, the anemia improves but patients develop slowly…
Dystonia 2, torsion, autosomal recessive
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99657 Definition Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. Epidemiology The exact prevalence is unknown. The disease is reported in a limited number of…
Ectodermal dysplasia blindness
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Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome is an inherited disease that mainly affects the brain, immune system, and the skin.[1] Loss of white matter in the brain (leukodystrophy) and abnormal deposits of calcium (calcification) in the brain leads to an early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability.[2] Additional symptoms may include epilepsy,…
Salivary gland cancer, adult
Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of…
Spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. Other features can include cleft palate,…
ALG3-CDG (CDG-Id)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79321 Definition A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported….
Infective endocarditis
Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called “endocarditis,” although it is important to distinguish it from non-infective endocarditis. IE is caused by bacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damage the heart and cause serious and…
Caspase-8 deficiency
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Spastic paraplegia 29
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101009 Definition A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to…
Amish Nemaline Myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98902 Definition A type of nemaline myopathy (NM) only observed in several families of the Amish community. Clinical description It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus…
Hereditary neuralgic amyotrophy
Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the group of nerves that control movement in the arms and shoulders called the brachial plexus. Signs and symptoms usually begin around 20 years of age and may include episodes of severe pain and muscle loss in one or both shoulders and arms. These…
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb…
Familial focal epilepsy with variable foci
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98820 Definition Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal,…
Hydrops fetalis
Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction,…
Umbilical cord ulceration and intestinal atresia
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Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 284247 Definition Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Visit the Orphanet disease…
Aortic arch anomaly peculiar facies intellectual disability
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1110 Definition A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears,…
NF-kappa B Essential Modulator Deficiency
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Progestogen hypersensitivity
Progestogen hypersensitivity causes a skin reaction that typically occurs during a woman’s menstrual cycle. Symptoms usually begin 3-10 days before a woman’s period and go away when her period is over. Skin symptoms may include rash, swelling, itching, hives, and red, flaky patches. More severe symptoms can include open sores, wheezing, and an asthma-like reaction. Progestogen hypersensitivity…
49, XXXYY syndrome
49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability,…
Methimazole antenatal exposure
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1923 Definition A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of…
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101097 Definition A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Epidemiology ARCMT2K was originally described in three Spanish families and has since been described in five additional Spanish kindreds, as well as in…
Glomerulopathy with fibronectin deposits 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 84090 Definition A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Epidemiology Fibronectin…
Fumarase deficiency
Fumarase deficiency is an inherited condition that affects the brain and other parts of the nervous system. Signs and symptoms may include a small head (microcephaly), severe developmental delay, poor feeding, weak muscle tone (hypotonia), failure to thrive, seizures, and distinctive facial features.[1][2] Most people with this deficiency are not able to speak or walk.[2][3]…
Spinocerebellar ataxia X-linked type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85297 Definition X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading…
Goblet cell carcinoid
Goblet cell carcinoid (GCC) is a rare tumor normally occurring in the appendix which displays features of both a neuroendocrine tumor and a more aggressive form of cancer known as an adenocarcinoma.[1][2] It is usually diagnosed in people over the age of 50. People with this tumor may develop acute appendicitis, abdominal pain, and diarrhea. Prognosis largely depends on…
Lewy body dementia
Lewy body dementia is one of the most common forms of progressive dementia. People affected by this condition may experience a variety of symptoms such as changes in alertness and attention; hallucinations; problems with movement and posture; muscle stiffness; confusion; and/or memory loss. Although the exact cause of Lewy body dementia is poorly understood, symptoms…
Spastic paraplegia 4
Spastic paraplegia 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) inherited in an autosomal dominant manner. Disease onset ranges from infancy to older adulthood. SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex…
Glycogen storage disease type 0, liver
Glycogen storage disease type 0, liver (liver GSD 0), a form of glycogen storage disease (GSD), is a rare abnormality of glycogen metabolism (how the body uses and stores glycogen, the storage form of glucose).[1] Unlike other types of GSD, liver GSD 0 does not involve excessive or abnormal glycogen storage, and causes moderately decreased glycogen stores in the liver.[2] Symptoms typically…
Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome, Escobar type is characterized by webbing of skin (pterygium) and a lack of muscle movement (akinesia) that occur before birth. The pterygium typically affect the neck, fingers, elbows, and/or knees. Individuals with multiple pterygium syndrome, Escobar type may also develop a restriction of the joints, known as arthrogryposis, a sideways curve of…
Multiple café-au-lait spots
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2678 Definition Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic…
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