TaoMedAI/RareMedData huggingface dataset:
Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Epidemiology
The exact prevalence of MCLID is not known but the disorder is thought to be rare. Approximately 50 families with clinical features of the syndrome have been described to date with mutations in the KIF11 gene reported in 25 families worldwide. Males and females appear to be affected equally.
Clinical description
MCLID presents with variable expression of the main clinical features (microcephaly, chorioretinopathy, lymphedema and intellectual disability). The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including upslanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognized. The ocular features include choroidal atrophy and non-progressive dysplasia. Hypermetropic astigmatism, myopic astigmatism, retinal folds, and microphthalmia are also observed. Lymphedema when present, is generally congenital, bilateral and confined to the dorsa of the feet, and resembles the lymphedema seen in Milroy disease (see this term). Congenital heart defects and epilepsy may be rare features of the syndrome.
Etiology
There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). KIF11 encodes EG5, a homotetramer kinesin motor, likely to be important for the development and maintenance of retinal and lymphatic structures. Individuals with pathogenic mutations in KIF11 have been reported without clinical features of the syndrome demonstrating reduced penetrance.
Genetic counseling
Inheritance is autosomal dominant with variable expression and reduced penetrance.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Dr Gabriela JONES  - Pr Sahar MANSOUR  - Dr Pia OSTERGAARD
Microcephaly-microcornea syndrome, Seemanova type (ORPHA:2528)
Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
Microcephaly-micromelia syndrome (ORPHA:572768)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe intrauterine growth retardation, profound microcephaly, dysmorphic craniofacial features (such as craniosynostosis and distinctive facial appearance with short palpebral fissures, broad and beaked nose, microstomia, micrognathia, low-set ears, and short neck), and variable malformations of the limbs, especially the arms. Cardiac, gastrointestinal, and genitourinary anomalies have also been reported. Brain imaging shows gray and white matter abnormalities and hypoplastic or absent corpus callosum. The disease is commonly fatal in the fetal to neonatal period due to respiratory failure.
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.
Microcephaly-seizures-intellectual disability-heart disease syndrome (ORPHA:2519)
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome (ORPHA:423306)
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
Microcephaly-short stature-limb abnormalities syndrome (ORPHA:572773)
A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly, intrauterine growth retardation, short stature and variable limb anomalies such as radial ray defects, short limbs, absent/hypoplastic patellae, syndactyly, brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose, microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal.
Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
Microcornea-glaucoma-absent frontal sinuses syndrome (ORPHA:2536)
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome (ORPHA:369970)
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome (ORPHA:231736)
A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.
Microcystic lymphatic malformation (ORPHA:79490)
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.
Microcystic stromal tumor (ORPHA:569248)
A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.
Microcytic anemia with liver iron overload (ORPHA:83642)
A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
Etiology
This syndrome is due to mutations in  DMT1 which codes for a transporter mediating the uptake of iron from the intestinal lumen in cytosol of duodenal enterocytes.
Management and treatment
Anemia poorly responds to oral iron treatment.

                            Last update: 
                            October 2006
Microduplication Xp11.22p11.23 syndrome (ORPHA:217377)
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
Epidemiology
To date, twelve patients have been described.
Clinical description
All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia, and syndactyly, are common. A peculiar electroencephalographic (EEG) pattern characterized by rolandic-like spikes and/or continuous spike wave during slow sleep (CSWS) exists in childhood.
Etiology
The microduplication was identified by microarray-based comparative genomic hybridization (aCGH). Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination (NAHR) or Alu-mediated recombination.

                            Last update: 
                            February 2010


                            - Expert reviewer(s): 
                            Dr Nicole MORICHON-DELVALLEZ
Microform holoprosencephaly (ORPHA:280200)
A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.
Microgastria-limb reduction defect syndrome (ORPHA:2538)
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.
Microlissencephaly-micromelia syndrome (ORPHA:50810)
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.
Microlissencephaly (ORPHA:1083)
Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
Microphthalmia with brain and digit anomalies (ORPHA:139471)
Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the  BMP4 gene, which has already been shown to play a role in eye development.
Microphthalmia with linear skin defects syndrome (ORPHA:2556)
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.
Microphthalmia, Lenz type (ORPHA:568)
A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.
Microphthalmia-ankyloblepharon-intellectual disability syndrome (ORPHA:85275)
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
Microphthalmia-brain atrophy syndrome (ORPHA:77299)
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.
Microphthalmia-microtia-fetal akinesia syndrome (ORPHA:2547)
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome (ORPHA:251279)
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.
Microspherophakia-metaphyseal dysplasia syndrome (ORPHA:2551)
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
Epidemiology
It has been reported in a father and his son.
Clinical description
Bone dysplasia is characterized by diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation, and retinal detachment. The affected patients have normal mental development.
Etiology
The condition is most probably hereditary, transmitted as an autosomal dominant trait.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Dr Nicole MORICHON-DELVALLEZ
Microsporidiosis (ORPHA:2552)
Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).
Epidemiology
The annual incidence of microsporidiosis is unknown and the geographical distribution of microsporidia remains to be defined. Immunodeficient patients (individuals with HIV, and patients who have undergone a bone marrow or organ transplant) are the main target.
Clinical description
The infection results in chronic diarrhea that leads to severe weight loss.
Etiology
Microsporidia are unicellular eukaryotic parasites without mitochondria and are responsible for opportunistic infections. Microsporidia are strictly intracellular parasites. The initial proliferative asexual stage (merogony) is followed by a disseminating stage (sporogony) that leads to spore development. Small spores (1 to 3 µm depending on the species) represent the most resistant and disseminating form and are characterized by a polar filament, which allows them to perforate the cell wall and inject nuclear material. They develop mainly in intestinal cells but may also develop in adipocytes, epithelium cells and blood cells. Several genera have been reported in humans, among which Encephalitozoon and Enterocytozoon are the most common. Contamination probably occurs after ingesting spores contained in water or food. Direct interhuman contamination is also likely.
Diagnostic methods
Diagnosis is based on the identification of spores through laboratory testing.
Differential diagnosis
Differential diagnoses include the other genera of microsporidia.
Management and treatment
Treatment with albendazole is well tolerated and successful, except for patients with Enterocytozoon bieneusi infections, for which only fumagillin is effective but hematotoxic.
Prognosis
The prognosis may be severe in immunodeficient patients.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Dr Annick DATRY
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome (ORPHA:139450)
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
Epidemiology
So far, it has been described in only one family.
Etiology
The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) localised to 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder.
Genetic counseling
Transmission is autosomal dominant.

                            Last update: 
                            May 2008
Microtia (ORPHA:83463)
A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.
Microtriplication 11q24.1 (ORPHA:289522)
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.
Micturation-induced seizures (ORPHA:166430)
Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.
Mid-dermal elastolysis (ORPHA:228299)
A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.
Middle aortic syndrome (ORPHA:1456)
A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).
Middle ear neuroendocrine tumor (ORPHA:100084)
Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.
Middle East respiratory syndrome (ORPHA:576074)
A rare infectious disease caused by Middle East respiratory syndrome coronavirus (MERS‐CoV) and characterized by a spectrum of illness, ranging from mild upper respiratory symptoms to rapidly progressive lower respiratory infection/pneumonia potentially leading to acute respiratory distress syndrome (ARDS), multi-system organ failure, and death. Presenting signs and symptoms typically include fever, cough, shortness of breath, chills, dyspnea, myalgia, abdominal pain, nausea, vomiting, and diarrhea.