TaoMedAI/RareMedData huggingface dataset:
Lattice corneal dystrophy type I (ORPHA:98964)
Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
Epidemiology
Prevalence of this form of corneal dystrophy is unknown. It is one of the more common forms in Western countries but has been reported worldwide.
Clinical description
Lesions mostly develop bilaterally towards the end of the 1st decade of life, but may develop in middle age, or rarely in infancy. LCDI is slowly progressive and usually results in substantial discomfort and visual impairment before the 6th decade. Corneal sensation is often diminished.
Etiology
Most cases of LCDI are caused by mutations in the multifunctional TGFBI gene (5q31).
Diagnostic methods
The interwoven linear opaque filaments have some resemblance to nerves, but may not be observed in all affected members of families with the condition. Recurrent corneal erosions may precede the corneal opacities and even appear in individuals lacking recognizable stromal disease. Amyloid deposits are found throughout the corneal stroma. Linear and other shaped opaque areas accumulate particularly within the central corneal stroma, while the peripheral cornea remains relatively transparent.
Genetic counseling
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
A corneal graft may be necessary by 20 years of age, but is usually not indicated until after the 4th decade. The outcome of penetrating keratoplasty (PK) is excellent, but amyloid may deposit in the grafted donor tissue after 2 to 14 years.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Laubry-Pezzi syndrome (ORPHA:99094)
Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.
Laurin-Sandrow syndrome (ORPHA:2378)
Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.
LCAT deficiency (ORPHA:650)
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
Epidemiology
Prevalence of LCAT deficiency is unknown. About 125 cases have been reported to date worldwide. Most cases were reported in Europe, Japan and Canada.
Clinical description
Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency (FLD, see this term) characterized by corneal opacities, anemia and renal insufficiency, and Fish-eye disease (FED, see this term) characterized by corneal opacities and sometimes atherosclerosis.
Etiology
LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyzes the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body, e.g. in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations. To date, more than 85 mutations in the LCAT gene have been identified. LCAT deficiency follows an autosomal recessive pattern of inheritance.

                            Last update: 
                            March 2012


                            - Expert reviewer(s): 
                            Pr Laura CALABRESI  - Pr Guido FRANCESCHINI
Lead poisoning (ORPHA:330015)
Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.
Leber plus disease (ORPHA:99718)
A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.
Ledderhose disease (ORPHA:199251)
A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.
Left sided atrial isomerism (ORPHA:566862)
A rare cardiac malformation characterized by both atrial appendages having the morphology of the left atrial appendage. It is associated with other anomalies of the heart, systemic and pulmonary veins, and other organ systems, including the gastrointestinal, respiratory, and genitourinary tract, as well as the spleen and immune system.
Left ventricular noncompaction (ORPHA:54260)
A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.
Legionnaires disease (ORPHA:549)
A rare form of Legionellosis characterized by a severe, potentially fatal, pneumonia.
Epidemiology
The annual notification rate in 2009 from 25 EU Member States amounted to approximately 1/90,000. In France the annual incidence is around 1/50,000.
Clinical description
LD has an incubation period of 2-10 days with fatigue and weakness often being the first signs of the disease. It manifests as pneumonia characterized by fever, cough, sputum production and shortness of breath. Other symptoms can include diarrhea, myalgia, headaches, confusion/delirium and nausea. LD is most severe in elderly and immunocompromised people (due to immunosuppressive therapy, especially with corticosteroids, transplants, hematologic malignancy or cancer), who are an ever-increasing risk group for infection. Other risk factors for LD include cigarette smoking, age over 50, male gender, diabetes, and chronic heart, lung or kidney disease.
Etiology
LD is caused by Legionella pneumophila (most commonly serogroup 1), a bacteria found in water and wet soil. Humans are infected by inhaling aerosols containing the bacteria, most commonly from showers, hot tubs, saunas or other bathing facilities. The same bacteria are responsible for Pontiac fever (PF; see this term) a mild form of LD. LD occurs sporadically and in outbreaks, with the sporadic form accounting for 65 to 80% of cases. Outbreaks are predominantly linked to contaminated aerosols from wet cooling systems or occur in hospitals, nursing homes or hotels.
Diagnostic methods
EU case definitions have been agreed upon associating clinical and laboratory criteria for case confirmation. Any person with pneumonia and one of the following criteria: isolation of Legionella spp.  from respiratory secretions or any normally sterile site, detection of L. pneumophila antigen in urine or L. pneumophila serogroup 1-specific antibody response, are given a diagnosis of LD. Detection of Legionella spp.  nucleic acid in a clinical specimen has been added as criteria for probable cases.
Differential diagnosis
The disease has no particular clinical features that clearly distinguish it from other types of pneumonia. Other bacterial (Streptococcus pneumonia, Staphylococcus aureus and Haemophilus influenza) or viral infections that cause pneumonia need to be ruled out.
Management and treatment
Treatment involves antibiotics (usually macrolides and quinolones). Hospitalization is often required. Ventilatory support may be necessary in those with serious breathing difficulties. Legionella surveillance programs are based on notification of cases at a national and European level and on legislation for controlling the development of the bacteria in the aquatic environment.
Prognosis
In most cases, LD is treated and cured with antibiotics but in those with compromised immune systems or underlying health conditions the prognosis can be poor. The overall case fatality rate is around 10-15%.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Sophie JARRAUD
Leiomyosarcoma of small intestine (ORPHA:104076)
Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.
Leiomyosarcoma of the cervix uteri (ORPHA:213807)
Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.
Leiomyosarcoma of the corpus uteri (ORPHA:213625)
Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.
Leiomyosarcoma (ORPHA:64720)
A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size.
Leishmaniasis (ORPHA:507)
A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).
Lelis syndrome (ORPHA:140936)
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
Epidemiology
So far, only eight cases have been described in the literature.
Clinical description
Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            July 2008
Lemierre syndrome (ORPHA:137839)
Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.
Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Epidemiology
Nine cases have been reported in the literature.
Clinical description
Marked hypertelorism and broad forehead are noted in all patients as well as large ears. Loose and wrinkled atrophic skin with prominent veins is also apparent, giving the patient a progeroid appearance. Increasing generalized osteosclerosis of tubular bones, vertebrae and cranial bones is a characteristic feature. Cutaneous syndactyly of 2nd to 5th fingers was observed in all patients, as well as brachydactyly (see this term) and proximal symphalangism (see this term). All patients have moderate to severe intellectual deficit.
Genetic counseling
The elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominant de novo mutation.

                            Last update: 
                            March 2010
Leprechaunism (ORPHA:508)
Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.
Epidemiology
It is a very rare condition with less than 1 case in every million births.
Clinical description
Leprechaunism is associated with a characteristic dysmorphic facies (resembling that of the 'leprechauns' in Irish folk traditions), atrophic subcutaneous adipose tissue (lipoatrophy) and muscular hypotrophy. Signs of virilization are often observed in young girls. Biologically, episodes of hypo- and hyperglycemia are observed along with marked hyperinsulinemia due to an extreme resistance to insulin.
Etiology
The syndrome is associated with homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).
Diagnostic methods
A positive diagnosis requires identification of one mutation in each allele of this gene.
Differential diagnosis
The differential diagnosis should include the other forms of extreme insulin resistance.
Genetic counseling
The disorder is transmitted as an autosomal recessive trait.
Management and treatment
Treatment with recombinant insulin-like growth factor 1 (IGF1) may be considered. A combination treatment with insulin-like growth factor binding protein 3 (IGF-BP3) resulted in an increased lifespan in one case.
Prognosis
Prognosis is uncertain, growth is severely affected and life expectancy rarely exceeds a few months.

                            Last update: 
                            January 2009


                            - Expert reviewer(s): 
                            Pr Jacqueline CAPEAU
Leptospirosis (ORPHA:509)
An anthropozoonosis, rare in Europe, clinically characterized by an initial presentation of flu-like symptoms rapidly progressing into life-threatening multisystem failure (notably hepatonephritis) caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.
Epidemiology
Estimations from the World Health Organization (WHO) indicate that over 1 million cases of leptospirosis are thought to occur each year, with a mortality rate ranging from 5 to 20% depending on the country. However, the incidence in Europe is much lower with, for example, 600-700 cases in France which is the country with the highest incidence in Europe.
Clinical description
Initial signs of infection include fever associated with shivering and pain (myalgia, headaches and abdominal pain). The disease progresses over several days with severity varying from flu-like symptoms to rapidly life-threatening multisystem failure, with the most characteristic manifestation being hepatonephritis. Marked jaundice, renal insufficiency, neurologic signs, respiratory involvement, myocarditis, painful hepatomegaly with splenomegaly, and bleeding may also occur. Laboratory investigations reveal polynuclear hyperleucocytosis, cholestasis that is in some cases severe and isolated (without or with only limited cytolysis), and occasionally rhabdomyolysis and thrombopenia.
Etiology
Animal hosts (generally rodents) excrete leptospires in their urine. Humans become infected through skin or mucosal contact with contaminated soft water. The incubation period lasts around 10 days.
Diagnostic methods
The diagnosis relies on PCR results and serology. PCR analysis of blood or urine samples can be used to detect leptospire DNA and allows early diagnosis within the first week following disease onset. Antibodies can become detectable by the 6th to 10th day of the onset of symptoms by IgM ELISA or microscopic agglutination test (MAT). However, leptospirosis is often diagnosed late due to its wide spectrum of symptoms ranging from a flu-like syndrome to renal failure.
Differential diagnosis
The symptoms mimic the clinical presentations of many other diseases, including dengue fever and malaria.
Management and treatment
Leptospira remain sensitive to penicillin G and therefore treatment is based on administration of antibiotics. Antibiotic therapy is beneficial but must be administered in the early stage of the disease. Disease prevention revolves around eradication of rodents and the use of proper precautions. In some countries, such as France, a vaccine is also available but is reserved for those in at-risk professions, such as sewerage workers.
Prognosis
Leptospirosis may lead to pulmonary hemorrhages and irreversible multiple organ failure and death in 5 to 20% of cases.

                            Last update: 
                            July 2024


                            - Expert reviewer(s): 
                            Dr Mathieu PICARDEAU
Leri pleonosteosis (ORPHA:2900)
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
Lethal acantholytic erosive disorder (ORPHA:158687)
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.
Epidemiology
Prevalence is unknown but 3 cases have been reported to date.
Clinical description
Onset of the disease is at birth. Erosions are associated with absent nails, universal alopecia, and, in one patient, neonatal teeth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity, and gastrointestinal, genitourinary and respiratory tract abnormalities. Cardiomyopathy has been reported in one case.
Etiology
This form of EBS is due to mutations in the DSP (6p24) gene encoding desmoplakin. A homozygous nonsense mutation in the JUP gene (17q21) has been reported in a patient with a very similar phenotype.
Genetic counseling
Transmission is autosomal recessive.
Prognosis
In reported cases, death occurred within the first month of life from multiorgan failure secondary to huge transcutaneous fluid loss or airway obstruction due to mucosal sloughing.

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                            Pr Giovanna ZAMBRUNO
Lethal arteriopathy syndrome due to fibulin-4 deficiency (ORPHA:314718)
A rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
Lethal ataxia with deafness and optic atrophy (ORPHA:1187)
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
Epidemiology
It was initially described in 12 male members from five generations of a Dutch family. Arts syndrome has also been described in one Australian family.
Clinical description
Other manifestations included floppiness, susceptibility to infections, and later, flaccid tetraplegia and areflexia.
Etiology
It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis.
Genetic counseling
Arts syndrome is transmitted as an X-linked recessive trait.
Management and treatment
Treatment with S-adenosylmethionine may be beneficial and is currently under evaluation.
Prognosis
The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract.

                            Last update: 
                            September 2008
Lethal brain and heart developmental defects (ORPHA:580933)
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.