TaoMedAI/RareMedData huggingface dataset:
Congenital myopathy, Paradas type (ORPHA:199329)
A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.
Congenital neutropenia-myelofibrosis-nephromegaly syndrome (ORPHA:369852)
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).
Congenital oculomotor nerve palsy (ORPHA:440221)
A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome (ORPHA:2772)
A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.
Congenital pancreatic cyst (ORPHA:313906)
A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease).
Congenital panfollicular nevus (ORPHA:139414)
Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.
Congenital partial agenesis of pericardium (ORPHA:99130)
Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.
Congenital partial pulmonary venous return anomaly (ORPHA:99124)
A form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.
Congenital patella dislocation (ORPHA:295036)
A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.
Congenital patent ductus arteriosus aneurysm (ORPHA:99072)
A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.
Congenital pericardium anomaly (ORPHA:2846)
Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).
Congenital plasminogen activator inhibitor type 1 deficiency (ORPHA:465)
A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
Epidemiology
Congenital plasminogen activator inhibitor type 1 (PAI-1) prevalence and incidence remain unknown. Both partial and total PAI-1 deficiencies are extremely rare disorders. In the Amish community (Indiana, USA), eighteen homozygous patients with clinical symptoms and more than 100 heterozygous patients without bleeding symptoms have been reported to date. Additional cases have been reported from North America, Europe and Asia.
Clinical description
Clinical signs of congenital PAI-1 deficiency may appear in early childhood. Spontaneous bleeding is rarely observed, whereas easy bruising or moderate hemorrhage localized to the joints (knees, elbows), nose and gingiva are usually triggered by mild trauma. Menstrual bleeding may be severe, and prolonged bleeding after surgery is common. Hemorrhage is less frequent and less severe (or absent) in heterozygous individuals (partial deficiency) and clinical manifestations, if any, may appear late in life after a traumatic or surgical event.
Etiology
Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. PAI-1 deficiency is a quantitative defect; however, in some patients the protein is present but functionally inactive.
Diagnostic methods
The diagnosis is based on antigenic (ELISA) and functional (plasminogen activator inhibition test) assays of PAI-1. A genotype analysis may be necessary in family studies. Molecular genetic testing confirms the diagnosis.
Differential diagnosis
Differential diagnosis includes acquired PAI-1 deficiency and alpha2-antiplasmin deficiency.
Genetic counseling
Heterozygotes are asymptomatic carriers. Carrier testing must be performed for relatives of affected patients with the SERPINE1 genetic variant.
Management and treatment
Prompt diagnosis is essential since hemorrhages can be safely and efficiently treated with fibrinolysis inhibitors (epsilon amino-caproic acid or tranexamic acid), avoiding the use of blood and derivatives. Menstruation and pregnancy require special consideration with regard to diagnosis and treatment with antifibrinolytics.
Prognosis
The prognosis is generally good as bleeding can be prevented and controlled with antifibrinolytic treatment.

                            Last update: 
                            August 2019


                            - Expert reviewer(s): 
                            Dr Eduardo ANGLES-CANO  - Pr Aurora DE LA PEÑA
Congenital portosystemic shunt (ORPHA:480531)
Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.
Congenital prekallikrein deficiency (ORPHA:749)
A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.
Congenital primary aphakia (ORPHA:83461)
A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.
Epidemiology
Congenital primary aphakia (CPAK) prevalance is unknown.
Clinical description
CPAK is a congenital eye defect presenting at birth with no lens formation, resulting from a failure of lens induction from the surface ectoderm and aborted lens development. CPAK is often associated with other ocular anomalies, including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, glaucoma.
Etiology
CPAK is caused by variants in the FOXE3 gene. Most cases are autosomal recessive. It is important to note that both dominant and recessive variants in FOXE3 are associated with a variable mixed phenotype of developmental eye disorders including anterior segment dysgenesis, microphthalmia, Peters anomaly, sclerocornea, early-onset cataract, glaucoma and ocular coloboma.
Diagnostic methods
Molecular diagnosis can be made through genetic testing, for example whole exome/genome sequencing and can be validated by bi-directional Sanger sequencing. Clinical diagnosis can be made based on clinical examination and confirmed with ultrasound. Anterior segment ultrasound biomicroscopy may aid detection of co-existent anterior segment dysgenesis. Due to the association of CPAK and the rubella virus, a TORCH complex evalutation is also recommended.
Antenatal diagnosis
Transabdominal ultrasound at 23 weeks gestation has detected CPAK.
Genetic counseling
Genetic testing for FOXE3 variants will provide a molecular diagnosis. This yields information regarding carrier status and provide choices that would not otherwise be available to facilitate decision making for the patient and their family. Genetic testing is essential for defining inheritance patterns, carrier status and enabling effective genetic counselling with consequent implications for prenatal or pre-implantation genetic diagnosis.
Management and treatment
CPAK should be managed by specialists with expertise in the condition. Supportive measures for those with sight impairment include involvement of social services. Regular follow-up will be required to monitor progression of associated anterior segment dysgenesis and glaucoma with medical and surgical interventions where needed. Intraocular surgery is not advised unless steps are taken to avoid inflammatory membrane formation and subsequent retinal detachment. Regular refraction to reduce/prevent amblyopia. Genetic counselling should be offered to the family.
Prognosis
Early diagnosis will enable prompt supportive treatment.

                            Last update: 
                            April 2020


                            - Expert reviewer(s): 
                            Dr Mariya MOOSAJEE  -  Hajrah SARKAR
Congenital primary lymphedema of Gordon (ORPHA:569821)
A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.
Congenital pseudoarthrosis of the clavicle (ORPHA:66630)
A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle.
Epidemiology
Currently, the reported incidence in UK is 1/17,500 livebirths and over 400 cases are described in literature. The condition is most likely underdiagnosed. No gender prevalence was observed.
Clinical description
The condition is a typically monolateral painless bulge in the mid-portion of the clavicle, which involves the right side in over 90% of cases. Association with cervicothoracic abnormalities (e.g. cervical ribs) is uncommon (<5%). Association with dextrocardia, in case of involvement of the left clavicle, is unproven.
Etiology
Etiology is unknown. Familial inheritance or syndromic association is sporadic (<3%).
Diagnostic methods
Diagnosis is usually made during the first years of life by clinical examination and confirmed by plain radiographs.
Differential diagnosis
Differential diagnosis includes obstetric fracture, post-traumatic nonunion, cleidocranial dysostosis and neurofibromatosis.
Antenatal diagnosis
No case of prenatal diagnosis is reported.
Genetic counseling
Genetic counseling is mainly recommended to rule out other similar conditions (cleidocranial dysostosis or neurofibromatosis).
Management and treatment
Surgical repair is recommended in case of pain and functional impairment; other indications include cosmetic issues. The most used surgical procedure consists of open debridement, refreshing of bone ends, fixation with pin or plate and autologous bone graft from iliac crest. The rate of successful union is close to 90%.
Prognosis
The condition is benign. Patients may remain asymptomatic during their entire life. The shoulder's range of movement is usually unimpaired, with no associated pain. In most cases it represents only an esthetic issue. Nevertheless, symptoms may have an apparent slight increase with age, although sufficient information regarding the natural history of the pathology during the adulthood is lacking, especially in untreated patients.

                            Last update: 
                            December 2022


                            - Expert reviewer(s): 
                            Dr Alessandro DEPAOLI  - Dr Giovanni TRISOLINO  - Dr Paola ZARANTONELLO
Congenital pseudoarthrosis of the femur (ORPHA:295020)
A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.
Congenital pseudoarthrosis of the fibula (ORPHA:295022)
A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.
Congenital pseudoarthrosis of the radius (ORPHA:295024)
A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.
Congenital pseudoarthrosis of the tibia (ORPHA:295018)
A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.
Congenital pseudoarthrosis of the ulna (ORPHA:295026)
A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.
Congenital ptosis (ORPHA:91411)
Congenital ptosis is characterized by superior eyelid drop present at birth.
Epidemiology
Prevalence is unknown.
Etiology
Isolated congenital ptosis is unilateral in 75% of the cases.
Genetic counseling
Two patterns of inheritance have been described in familial cases: autosomal dominant and X-linked.
Management and treatment
A medical or surgical treatment can potentially be proposed, depending on the severity of ptosis.

                            Last update: 
                            April 2007
Congenital pulmonary airway malformation type 0 (ORPHA:280827)
A rare subtype of congenital pulmonary airway malformation characterized by global arrest of lung development with small, solid appearing lungs with a diffusely granular surface, histologically featuring bronchus-like structures with smooth muscle, glands, and numerous cartilage plates, embedded in loose, vascular mesenchymal tissue. The condition presents at birth and is incompatible with life.
Congenital pulmonary airway malformation type 1 (ORPHA:280832)
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.
Congenital pulmonary airway malformation type 2 (ORPHA:280840)
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, consisting of small cysts of less than 2 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. The condition often presents with respiratory distress in the neonatal period or in infancy. It is frequently associated with other severe congenital anomalies, such as renal agenesis or dysgenesis, pulmonary sequestration, or cardiac abnormalities.
Congenital pulmonary airway malformation type 3 (ORPHA:280847)
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue consisting of numerous microcysts of less than 0.5 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving an entire lobe. The condition may be associated with polyhydramnios, fetal hydrops, and stillbirth, or present with severe respiratory distress in the neonatal period.
Congenital pulmonary airway malformation type 4 (ORPHA:280854)
A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1.
Congenital pulmonary airway malformation (ORPHA:2444)
A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.