TaoMedAI/RareMedData huggingface dataset:
Annular pancreas (ORPHA:675)
A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.
Epidemiology
The annual incidence is estimated at around 1/50,000 births, representing 10% of all cases of duodenal stenosis.
Clinical description
During the neonatal period, the clinical picture is dominated by epigastric distension with vomiting, which is nonbilious as the obstruction is usually supra-vaterian (above the junction of the biliary ducts). As in other forms of duodenal atresia, malformations of the cranial intestine are also frequently present in patients with annular pancreas. Cardiac anomalies may also be present and are more frequent in the context of notochord induction anomalies or deficiency. Chromosomal abnormalities are present in one-third of cases of annular pancreas, with trisomy 21 (followed by trisomy 18 and 13; see these terms) being the most frequently detected anomaly.
Etiology
Annular pancreas is an embryopathy resulting from an anomaly occurring early (towards the fourth week) in development. It is a distinct form of duodenal atresia, rather than a pancreatic anomaly, and should not be confused with other congenital malformations of the pancreas or pancreaticobiliary ducts (such as anomalies of the pancreaticobiliary junction) for which the diagnosis cannot be made until childhood or adulthood.
Diagnostic methods
Diagnosis of annular pancreas is often made before birth through ultrasound findings showing duodenal dilation and through difficulties in observing peri-duodenal pancreatic development. In cases where the diagnosis is not made prenatally, it is made in the neonatal period on the basis of the clinical picture and imagining studies (abdominal radiography and ultrasound).
Differential diagnosis
The differential diagnosis should include other forms of duodenal stenosis.
Antenatal diagnosis
Prenatal diagnosis allows management to be planned in a specialized center immediately after birth.
Management and treatment
Investigations using a gastric tube allow drainage of the digestive tract prior to the site of obstruction. Treatment is surgical and is performed in the neonatal period.
Prognosis
The prognosis for annular pancreas is very favorable, but the overall prognosis depends on the presence of associated malformations.

                            Last update: 
                            January 2019


                            - Expert reviewer(s): 
                            Pr Frédéric BARGY
Anoctamin-5-related limb-girdle muscular dystrophy R12 (ORPHA:206549)
A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
Anodontia (ORPHA:99797)
An extreme developmental dental anomaly characterized by the complete absence of all teeth.
Epidemiology
The prevalence is unknown but it is extremely rare and usually only occurs as part of an associated syndrome such as X-linked hypohidrotic ectodermal dysplasia (X-linked HED; see this term).
Etiology
Genes found to be responsible for HED include EDA and EDAR and EDARADD.
Diagnostic methods
Clinical examination along with a panoramic radiograph (and intra-oral X-rays if needed) is performed when teeth eruption is delayed and teeth are then thought to be missing. In normal conditions all primary teeth and crypts of permanent first molars are visible on radiography at birth and permanent teeth crowns (except third molars) at 6 years of age. A diagnosis of anodontia is given when all teeth are missing.
Management and treatment
Treatment involves full fixed dentures or, in suitable candidates, dental implants. Early mandibular implants therapy is indicated in these severe phenotypes of anodontia. A marked alveolar bone hypotrophy is generally associated with anodontia and requires CT exams of the mandible and 3D reconstructions for implants surgical planning. Maxillary rehabilitation based on osteointegrated implants and prosthodontics is indicated at the end of the skeletal growth. Bone grafts such as onlay autogenous grafts and maxillary sinus floor augmentation procedures are often necessary. Before completion of growth a removable maxillary denture should be used.

                            Last update: 
                            January 2013


                            - Expert reviewer(s): 
                            Pr Agnès BLOCH-ZUPAN  - Dr François CLAUSS
Anomalous aortic origin of coronary artery (ORPHA:541478)
A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed.
Anomalous aortic origin of the left coronary artery (ORPHA:541443)
A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia.
Anomalous aortic origin of the right coronary artery (ORPHA:541454)
A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present.
Anomalous origin of coronary artery from the pulmonary artery (ORPHA:541507)
A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed.
Anomaly of the coronary ostia (ORPHA:542822)
A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia.
Anomaly of the mitral subvalvular apparatus (ORPHA:101932)
A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.
Anomaly of the tricuspid subvalvular apparatus (ORPHA:95463)
A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.
Anonychia with flexural pigmentation (ORPHA:69125)
A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.
Anonychia-microcephaly syndrome (ORPHA:1094)
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
Anophthalmia plus syndrome (ORPHA:1104)
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (ORPHA:1101)
A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
Anophthalmia/microphthalmia-esophageal atresia syndrome (ORPHA:77298)
A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Epidemiology
Prevalence is unknown but less than 30 cases (male and female) have been described in the literature so far.
Clinical description
Genital anomalies (hypospadias, micropenis, and/or cryptorchidism) were reported in most of the male patients. Several other associated anomalies have been described including developmental anomalies of the central nervous system, cardiac defects, vertebral anomalies, growth failure, sensorineural hearing loss, anterior pituitary hypoplasia and hypogonadotropic hypogonadism. Intellectual development was normal in some cases, but mild to significant psychomotor delay has also been reported.
Etiology
Inheritance is autosomal dominant and the syndrome is caused by heterozygous mutations or deletions in the SOX2 gene (3q26.3-q27).

                            Last update: 
                            February 2010
Anotia (ORPHA:93976)
A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.
Antecubital pterygium syndrome (ORPHA:2987)
A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.
Anterior maxillary protrusion-strabismus-intellectual disability syndrome (ORPHA:562559)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.
Anti-p200 pemphigoid (ORPHA:454710)
A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.
Epidemiology
Approximately 115 cases been reported in the literature to date. A male predominant of about 2:1 is observed.
Clinical description
The disease predominantly affects elderly people (mean age 66 years, range 28-91). Cutaneous lesions are polymorphic, but typically include itchy erythematous lesions and tense blisters, vesicles, and erosions on trunk and extremities, with possibly predominant palmoplantar involvement. In some cases, patients can have annularly arranged lesions. Usually, lesions heal without scarring, and milia formation has only been reported in few cases. About half of the patients have mucosal involvement affecting either oral or anogenital mucosa, or both. In Japanese patients, coexisting (mostly preexisting) psoriasis may be present (30% of cases).
Etiology
The exact etiology is unknown, but may be related to laminin gamma-1, consistent with the identified characteristics of the p200 protein (an acidic non-collagenous N-linked glycoprotein localized within the lower lamina lucida outside of hemidesmosomes).
Diagnostic methods
Diagnosis is based on the combination of the clinical features and direct immunofluorescence microscopy showing linear deposits of IgG and/or C3 at the dermal-epidermal junction in an n-serrated pattern and is confirmed by detection of a 200-kDa band by immunoblotting of patients' serum on human dermal extracts. About 90% of patients' sera are positive for anti-laminin-gamma 1 reactivity on ELISA or immunoblotting.
Differential diagnosis
Differential diagnosis includes bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphigoid, IgA linear bullous dermatosis, pemphigus herpetiform, and pemphigus.
Management and treatment
The treatment may follow that of bullous pemphigoid. Super-potent topical corticosteroids may be applied on the whole-body surface or tapering doses of prednisolone 0.5 mg/kg/day, frequently associated with dapsone. Doxycycline, azathioprine and ciclosporine can also be used.
Prognosis
Prognosis is variable. Most patients achieve complete remission on therapy. The use of systemic corticosteroid treatment may contribute to higher mortality rate in the older patients.

                            Last update: 
                            April 2020


                            - Expert reviewer(s): 
                            Dr Marion CASTEL | ERN-Skin* - Pr Pascal JOLY | ERN-Skin*


                                * European Reference Network
Antiphospholipid syndrome (ORPHA:80)
A rare systemic autoimmune disease characterized by hypercoagulability with vascular thrombosis and, in women, pregnancy morbidity (miscarriages, severe pre-eclampsia, placental insufficiency) in the presence of serum antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies.
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome (ORPHA:1110)
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, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
Aortic arch interruption (ORPHA:2299)
A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
Aorto-ventricular tunnel (ORPHA:3400)
A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.
Epidemiology
The exact incidence is unknown, estimates ranging from 0.5% of fetal cardiac malformations to less than 0.1% of congenitally malformed hearts in clinico-pathological series. Approximately 130 cases have been reported in the literature, about twice as many cases in males as in females.
Clinical description
Associated defects, usually involving the proximal coronary arteries, or the aortic or pulmonary valves, are present in nearly half the cases. Occasional patients present with an asymptomatic heart murmur and cardiac enlargement, but most suffer heart failure in the first year of life.
Etiology
The etiology of aorto-ventricular tunnel is uncertain. It appears to result from a combination of maldevelopment of the cushions which give rise to the pulmonary and aortic roots, and abnormal separation of these structures.
Diagnostic methods
Echocardiography is the diagnostic investigation of choice. Antenatal diagnosis by fetal echocardiography is reliable after 18 weeks gestation.
Differential diagnosis
Aorto-ventricular tunnel must be distinguished from other lesions which cause rapid run-off of blood from the aorta and produce cardiac failure.
Management and treatment
Optimal management of symptomatic aorto-ventricular tunnel consists of diagnosis by echocardiography, complimented with cardiac catheterization as needed to elucidate coronary arterial origins or associated defects, and prompt surgical repair. Observation of the exceedingly rare, asymptomatic patient with a small tunnel may be justified by occasional spontaneous closure. All patients require life-long follow-up for recurrence of the tunnel, aortic valve incompetence, left ventricular function, and aneurysmal enlargement of the ascending aorta.

                            Last update: 
                            October 2007


                            - Expert reviewer(s): 
                            Dr Roxane MCKAY
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome (ORPHA:1112)
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Aphalangy-syndactyly-microcephaly syndrome (ORPHA:1113)
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome (ORPHA:324540)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
Aplasia cutis congenita-intestinal lymphangiectasia syndrome (ORPHA:1116)
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Aplasia cutis-myopia syndrome (ORPHA:1117)
A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
Aplasia of lacrimal and salivary glands (ORPHA:86815)
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
Apnea of prematurity (ORPHA:99981)
A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.
Aprosencephaly cerebellar dysgenesis (ORPHA:1126)
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.