TaoMedAI/RareMedData huggingface dataset:
Congenital pulmonary lymphangiectasia (ORPHA:2414)
A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.
Epidemiology
The prevalence is unknown.
Clinical description
Congenital pulmonary lymphangiectasia (PL) presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth.
Etiology
Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion.
Diagnostic methods
The diagnostic approach includes obtaining a complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination.
Differential diagnosis
During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL.
Antenatal diagnosis
Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL.
Management and treatment
At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage.
Prognosis
Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

                            Last update: 
                            October 2006


                            - Expert reviewer(s): 
                            Dr Carlo BELLINI  - Pr Francesco BOCCARDO  - Pr Eugenio BONIOLI  - Pr Corradino CAMPISI
Congenital pulmonary sequestration (ORPHA:3161)
Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.
Congenital pulmonary veins atresia or stenosis (ORPHA:3188)
A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.
Congenital pulmonary venous return anomaly (ORPHA:3090)
A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.
Congenital renal artery stenosis (ORPHA:97598)
A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria.
Congenital respiratory-biliary fistula (ORPHA:2040)
Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.
Congenital retinal arteriovenous communication (ORPHA:353334)
A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.
Congenital short bowel syndrome (ORPHA:2301)
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome (ORPHA:369861)
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.
Congenital smooth muscle hamartoma (ORPHA:263435)
Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.
Congenital stationary night blindness (ORPHA:215)
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.
Congenital stenosis of the inferior vena cava (ORPHA:99122)
A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings.
Congenital stromal corneal dystrophy (ORPHA:101068)
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
Epidemiology
The exact prevalence of this corneal dystrophy is not known but it is very rare: CSCD has been reported in 4 families to date in Germany, France, Belgium and Norway.
Clinical description
Patients develop bilateral corneal lesions before birth. The flakes and spots become more numerous with age, progressively increasing the effect on vision. Corneal erosions, photophobia and corneal vascularization are absent. Some patients have strabismus or primary open-angle glaucoma.
Etiology
The etiology of this condition is not known but mutations in the DCN gene (12q23) which codes for decorin have been identified in affected patients. DCN codes for a protein that may affect the rate of fibril formation.
Diagnostic methods
The morphologic abnormalities observed in CSCD include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter.
Genetic counseling
Transmission appears to be autosomal dominant.
Management and treatment
A penetrating keratoplasty is the treatment of choice.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Congenital subglottic stenosis (ORPHA:141121)
A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.
Congenital supravalvular mitral ring (ORPHA:99059)
Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.
Congenital syphilis (ORPHA:499009)
A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.
Congenital systemic arteriovenous fistula (ORPHA:2039)
Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.
Congenital temporomandibular joint ankylosis (ORPHA:210576)
Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.
Congenital total pulmonary venous return anomaly (ORPHA:99125)
A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.
Congenital tracheal stenosis (ORPHA:141127)
A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.
Congenital tracheomalacia (ORPHA:95430)
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
Congenital tricuspid stenosis (ORPHA:95459)
A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.
Congenital tricuspid valve dysplasia (ORPHA:555874)
A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur.
Congenital trigeminal anesthesia (ORPHA:231013)
Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).
Congenital trochlear nerve palsy (ORPHA:98686)
A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.
Congenital unguarded mitral orifice (ORPHA:99060)
Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.
Congenital unilateral hypoplasia of depressor anguli oris (ORPHA:1166)
A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.
Congenital urachal anomaly (ORPHA:435743)
Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).
Congenital varicella syndrome (ORPHA:291)
A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.
Congenital velopharyngeal incompetence (ORPHA:2291)
A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.
Congenital vertebral-cardiac-renal anomalies syndrome (ORPHA:521438)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.
Congenital vertical talus (ORPHA:178382)
Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
Clinical description
It occurs more commonly in males than females. Some patients have vertical talus in one foot and clubfoot in the other.
Etiology
The etiology and epidemiology of this condition are largely unknown. The reported familial cases are consistent with an autosomal dominant mode of inheritance with incomplete penetrance and mutations in HOXD10 gene have been detected in two families.
Management and treatment
Serial manipulation and cast immobilization followed by limited surgery provides excellent results.

                            Last update: 
                            October 2010
Congenitally short costocoracoid ligament (ORPHA:2391)
A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989.
Congenitally uncorrected transposition of the great arteries (ORPHA:860)
Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.
Epidemiology
The incidence is estimated at 1 in 3,500-5,000 live births, with a male-to-female ratio of 1.5 to 3.2:1.
Clinical description
In 50% of cases, the VA discordance is an isolated finding. In 10% of cases, TGA is associated with noncardiac malformations. The association with other cardiac malformations such as ventricular septal defect (VSD) and left ventricular outflow tract obstruction is frequent and dictates the timing and clinical presentation, which consists of cyanosis with or without congestive heart failure. The onset and severity depend on anatomical and functional variants that influence the degree of mixing between the two circulatory systems. If no obstructive lesions are present and there is a large VSD, cyanosis may go undetected and only be perceived during episodes of crying or agitation. In these cases, signs of congestive heart failure prevail.
Etiology
The exact etiology remains unknown. Some associated risk factors (gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of antiepileptic drugs) have been proposed. Mutations in the growth differentiation factor-1 gene (GDF1), the mediator complex subunit 13-like gene (MED13L) and the gene encoding the cryptic protein (CFC1) have been shown to be implicated in discordant VA connections, but they account for only a small minority of congenitally uncorrected TGA cases.
Diagnostic methods
The diagnosis is confirmed by echocardiography, which also provides information about the morphological details required for future surgical management.
Differential diagnosis
The differential diagnosis should include other causes of central neonatal cyanosis.
Antenatal diagnosis
Prenatal diagnosis by fetal echocardiography is feasible and useful as it may improve early neonatal management and reduce morbidity and mortality.
Management and treatment
Palliative treatment with prostaglandin E1 and balloon atrial septostomy are usually required soon after birth. Surgical correction is performed at a later stage. Usually, the Jatene arterial switch operation is the procedure of choice. Whenever this operation is not feasible, an adequate alternative surgical approach should be implemented.
Prognosis
With the advent of newer and improved surgical techniques and improved post-operative intensive care, the long-term survival is approximately 90% at 15 years of age. However, exercise performance, cognitive function and quality of life may be impaired.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Dr Eduardo CASTELA  - Dr Paula MARTINS
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (ORPHA:300284)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.