Rare Ophthalmology News

Laryngomalacia

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Q31.5

Laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back…

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Developmental prosopagnosia

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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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Peters anomaly

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Q13.4

Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities.[1] The cause of Peters anomaly is unknown; it may…

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Primary hyperaldosteronism

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Primary hyperaldosteronism is a disorder caused by excess production of the hormone aldosterone by the adrenal glands. The main symptom of primary hyperaldosteronism is high blood pressure (hypertension), but other symptoms may include headaches, weakness, swelling (edema), and muscle spasms (tetany). The cause of primary hyperaldosteronism can vary. One cause may be an adenoma, or…

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Weissenbacher-Zweymuller syndrome

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Dentin dysplasia, coronal

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K00.5

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….

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Plagiocephaly

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Pituitary hormone deficiency, combined 3

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231720 Definition Non-acquired combined pituitary hormone deficiencysensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent…

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Pruritic urticarial papules plaques of pregnancy

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O26.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64745 Definition A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy,…

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Craniosynostosis Fontaine type

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Hairy elbows

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Q84.2

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…

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Spastic paraplegia with precocious puberty

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Cryoglobulinemic vasculitis

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D89.1

Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal immune system proteins called cryoglobulins. 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. When symptoms occur, they…

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Hantavirus pulmonary syndrome

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B33.4+ J17.1*

Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills,…

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Pseudodiastrophic dysplasia

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Q78.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85174 Definition Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10…

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Kyphoscoliotic Ehlers-Danlos syndrome

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Q79.6

Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera.[1][2] kyphoscoliosis EDS is caused by changes (mutations) in…

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Hereditary cerebral hemorrhage with amyloidosis

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E85.4+ I68.0*

Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th…

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Pyomyositis

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M60.0

Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of cases are caused by the…

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Phyllodes tumor of the breast

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D48.6

Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast.[1][2] They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek).[2][3] They are most common in women in their 30s and 40s, although women of any age can be affected. These…

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Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

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Q82.4

Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.[1] These features have lead to the acronym ANOTHER syndrome…

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Renal dysplasia-limb defects syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3404 Definition Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants…

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Dermochondrocorneal dystrophy of François

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79149 Definition Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on…

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Microsomia hemifacial radial defects

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Q75.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2549 Definition Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of unior bilateral craniofacial malformation and radial defects that result in extremely variable…

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Syndactyly type 3

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Q70.1

Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused…

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Deafness progressive cataract autosomal dominant

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Abetalipoproteinemia

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E78.6

Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties.[1][2] The long-term outcome can…

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Sarcoma botryoides

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Glanzmann thrombasthenia

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D69.1

Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms…

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Alpha-thalassemia-abnormal morphogenesis

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X-linked dominant scapuloperoneal myopathy

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X-linked 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.[1][2] Some cases of scapuloperoneal myopathy…

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Dent disease

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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…

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Episodic ataxia with nystagmus

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G11.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97 Definition Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia….

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Spondyloepimetaphyseal dysplasia, Aggrecan type

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Q77.7

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171866 Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Epidemiology To date, three cases have been described, all originating from…

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Devriendt syndrome

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Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

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D84.8

Adult-onset immunodeficiency with antiinterferon-gamma autoantibodies is an immunodeficiency disorder. It is associated with susceptibility to disseminated infections (dispersed throughout the body) caused by organisms that typically affect only people with weak immune systems (opportunistic pathogens).[1] People with this disorder produce higher amounts of anti-interferon-gamma autoantibodies. These are specific immune system proteins that mistakenly target a person’s…

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Siderosis

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DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

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DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1…

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Acrodysplasia scoliosis

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Q87.5

Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner….

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Spastic paraplegia 12

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G11.4

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…

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Parapsoriasis

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Parapsoriasis describes a group of skin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation…

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Duane-radial ray syndrome

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Q87.8

Duane-radial ray syndrome (DRRS) is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or…

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Spondylometaphyseal dysplasia type A4

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Q77.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168555 Definition Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an…

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Welander distal myopathy, Swedish type

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G71.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 603 Definition A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle…

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Acute megakaryoblastic leukemia

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C94.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 518 Definition A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous…

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Symphalangism distal

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Sepiapterin reductase deficiency

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G24.1

Sepiapterin reductase deficiency is a neurometabolic disorder characterized by a pattern of involuntary sustained muscle contractions known as dystonia. Other common features include axial hypotonia , oculogyric crises, and delays in motor and cognitive development. The condition is caused by mutations in the SPR gene. It is inherited in an autosomal recessive fashion.[1][2] Treatment with levodopa (L-dopa) in combination with…

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Adenosine Deaminase 2 deficiency

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M30.8

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,…

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Temple syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254516 Definition Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad,…

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Spinal muscular atrophy with respiratory distress 1

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G12.2

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Anemia due to Adenosine triphosphatase deficiency

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TORCH syndrome

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Langer mesomelic dysplasia

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Q87.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2632 Definition A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. Epidemiology The exact prevalence is unknown. More than 100 cases have…

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Neonatal adrenoleukodystrophy

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E71.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 44 Definition A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). Epidemiology…

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Xanthinuria type 2

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E79.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93602 Definition Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde…

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Dystrophinopathy

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Arthrochalasia Ehlers-Danlos syndrome

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Q79.6

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis).[1][2] EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is…

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Epidermolysis bullosa simplex, generalized

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Q81.0

Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body’s surface.[1][2][3] Though it is not a common feature of this type, scarring may occur. There…

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Agnathia-microstomia-synotia

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Winchester syndrome

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Noble Bass Sherman syndrome

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Q15.8

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Otulipenia

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Elective mutism

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Pseudopseudohypoparathyroidism

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E20.1

Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.[1][2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[3] Some people…

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Enchondroma

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Epidermodysplasia verruciformis

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B07

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 302 Definition Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. Epidemiology The exact…

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N-acetyl-alpha-D-galactosaminidase deficiency type III

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E77.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79281 Definition A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. Epidemiology Prevalence of this disorder is not known but less than 20 cases have…

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Erysipelas

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Ameloblastic carcinoma

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C41.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314422 Definition A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may…

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Paramyotonia congenita

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G71.1

Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure…

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Glycogen storage disease type 4

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E74.0

Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver…

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Faciomandibular myoclonus, nocturnal

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Androgenetic alopecia

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Androgenetic alopecia is a common form of hair loss in both men and women. In men, hair is usually lost in a well-defined pattern, beginning above both temples and is usually referred to as male-pattern baldness. Over time, the hairline recedes to form a characteristic ‘M’ shape. Hair also thins near the top of the…

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Familial hemophagocytic lymphohistiocytosis

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D76.1

Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes).[1] People with HLH usually develop symptoms within the first months or years of life. Symptoms may include fever, enlarged liver or spleen, cytopenia (decreased number of blood cells), and neurological abnormalities.[2][3] HLH may be inherited in…

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Angiosarcoma of the breast

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Marcus Gunn phenomenon

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Q07.8

Marcus Gunn phenomenon is a rare condition characterized by movement of the upper eyelid in a rapid rising motion (a “wink”) each time the jaw moves.[1] The wink phenomenon may be elicited by opening the mouth, thrusting the jaw to the side, jaw protrusion, chewing, smiling, or sucking.[2] It is usually present at birth and…

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Anonychia congenita

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79143 Definition Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission,…

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Progressive myoclonic epilepsy

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Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy.[1] Other features include dementia, dystonia, and trouble…

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Necrotizing autoimmune myopathy

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 206569 Definition Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. Epidemiology The…

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Wolman disease

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E75.5

Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency.[1] The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and…

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Factor V Leiden thrombophilia

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Factor V Leiden thrombophilia is a genetic disorder that makes it more likely for you to develop a blood clot sometime during your life. Still, it is estimated that 95% of people with factor V Leiden never develop a clot. When a clot does form, the clot most often occurs in your leg (deep venous…

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Autoimmune polyglandular syndrome type 3

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E31.0

Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body’s endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.[1][2][3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia,…

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Gingival fibromatosis, 3

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Crigler-Najjar syndrome type 2

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E80.5

Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a…

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Focal task-specific dystonia

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Focal task-specific dystonia (FTSD) is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. FTSD interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a…

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Gordon syndrome

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Q68.8

Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are…

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Free sialic acid storage disease

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E77.8

Free sialic acid storage diseases are inherited conditions that lead to progressive neurological damage. There are three forms of free sialic acid storage diseases; an infantile form, an intermediate severe form and Salla disease. The infantile form is the most severe, with symptoms appearing before birth or soon after. Salla disease is the least severe…

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Atrial septal defect coronary sinus

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Q21.1

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Glutaric acidemia type I

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E72.3

Glutaric acidemia type I (GA1) is a genetic metabolic disorder. People with GA1 don’t make enough of one of the enzymes needed to break down certain amino acids found in the proteins we eat. Without enough of the enzyme, the breakdown products of these amino acids build up in tissues of the body. The buildup of these…

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Richards-Rundle syndrome

Unknown
G60.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1399 Definition Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or…

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Gas bloat syndrome

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Atypical Werner syndrome

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E34.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79474 Definition An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged…

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Genetic reflex epilepsy

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Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

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G60.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 401964 Definition A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy…

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Glaucoma, hereditary adult type 1A

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Glutamate decarboxylase deficiency

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Pachygyria, frontotemporal

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Polyembryoma

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Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy.[1] Symptoms of a…

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Troyer syndrome

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Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia.[1][2] Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature.[2][3][1]…

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Rowley-Rosenberg syndrome

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Baby rattle pelvic dysplasia

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