TaoMedAI/RareMedData huggingface dataset:
Congenital chronic diarrhea with protein-losing enteropathy (ORPHA:329242)
Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
Congenital chylothorax (ORPHA:264688)
Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.
Congenital complete agenesis of pericardium (ORPHA:99129)
Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.
Congenital cornea plana (ORPHA:53691)
A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.
Congenital coronary artery aneurysm (ORPHA:95491)
Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.
Congenital cystic eye (ORPHA:519384)
A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.
Congenital deficiency in alpha-fetoprotein (ORPHA:168612)
Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
Congenital disorder of glycosylation (ORPHA:137)
A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.
Congenital dyserythropoietic anemia type IV (ORPHA:293825)
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
Epidemiology
The prevalence is unknown. Only 4 cases have been reported to date.
Clinical description
Patients have been described as having severe anemia at birth that requires repeated transfusions. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features (large anterior fontanel, hypertelorism, micropenis, and hypospadias) have also been reported. These cases showed increased levels of fetal hemoglobin, a very large number of nucleated red blood cells in peripheral blood and bone marrow erythroblast morphologic abnormalities.
Etiology
CDA IV is due to mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis.
Genetic counseling
Genetic counseling is possible for CDA IV. It is inherited in an autosomal dominant manner.

                            Last update: 
                            September 2013


                            - Expert reviewer(s): 
                            Dr Mayka SÁNCHEZ FERNÁNDEZ
Congenital ectropion uveae (ORPHA:91491)
Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.
Congenital enterocyte heparan sulfate deficiency (ORPHA:103910)
A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.
Congenital enteropathy due to enteropeptidase deficiency (ORPHA:168601)
Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
Congenital enterovirus infection (ORPHA:292)
An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations.
Epidemiology
Congenital enterovirus infection (EV) prevalence is still unknown. EV infections are underdiagnosed in the mother (mainly because of frequent subclinical infections) and hence may be far more frequent than supposed.
Clinical description
Clinical manifestations of congenital EV infection ranges from asymptomatic to benign, febrile to severe illness consisting of variable combinations of sepsis, hepatitis, coagulopathy, myocarditis, pneumonitis and meningoencephalitis. Clinical features are observed in utero or occurring in the first 1-2 days of life, some with viremia detected within hours after delivery. Additional features of congenital EV infection include spontaneous abortion, hydrops fetalis and stillbirths in which multiorgan disease may include myocarditis or pancarditis. Fetal anomalies of the cardiovascular, gastrointestinal and genitourinary system, along with neurodevelopmental delay, bilateral pleural effusion, abdominal ascitis, severe respiratory failure, cortical necrosis (that may lead to severe long-term neurologic sequelae) have also been scarcely reported. Infants may also develop a ''sepsis-like syndrome'' characterized by hypotension, leucopenia or leukocytosis, neutropenia, thrombocytopenia, and disseminated intravascular coagulopathy.
Etiology
Coxsackie A, B, ECHO viruses, and numbered EVs are believed to cross the placenta and cause fetal disease. Severity and outcome of perinatally acquired enteroviral infection is influenced by several factors, including term at delivery (premature neonates are more susceptible to severe infections), symptoms in the mother, infection in the 10 first days of life, virus strain, route of transmission (in utero or during delivery), and presence of passively acquired serotype-specific maternal antibody.
Diagnostic methods
In case of ultrasound findings antenatal diagnosis of congenital EV infection is achieved by molecular detection of the virus' RNA in amniotic fluid. Postnatal diagnosis of EV infection (congenital or not) relies on molecular detection of the virus' RNA in plasma (including cord blood at birth), stool, nasopharyngeal swab, and cerebrospinal fluid.
Differential diagnosis
Differential diagnosis includes congenital infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex virus, Parvovirus B19, Syphilis.
Management and treatment
There is no specific curative treatment for EV maternal or congenital infection.
Prognosis
Prognosis of mild congenital EV infections is quite good if reanimation procedures are available. Prognosis of severe congenital EV infections is poor and the disease has been reported to be fatal.

                            Last update: 
                            March 2020


                            - Expert reviewer(s): 
                            Dr Christelle VAULOUP-FELLOUS
Congenital Epstein-Barr virus infection (ORPHA:70596)
A rare infectious disease that causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.
Congenital epulis (ORPHA:157826)
A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.
Congenital erosive and vesicular dermatosis (ORPHA:231573)
A rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.
Congenital esophageal diverticulum (ORPHA:91358)
A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.
Congenital eyelid retraction (ORPHA:99176)
Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.
Congenital factor II deficiency (ORPHA:325)
A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.
Epidemiology
Factor II deficiency is the most rare coagulation factor deficiency. Prevalence of homozygous forms is estimated at 1/2,000,000. Both sexes are equally affected.
Clinical description
Congenital FII deficiency can manifest at any age, with severe forms of the disease manifesting early in life. Common clinical signs include epistaxis, menorrhagia, oral cavity bleedings, mucosal bleeding, soft tissue bleeding, hemarthrosis, easy bruising, and prolonged bleeding after tooth extraction, trauma or surgery. Severe forms may present intracranial hemorrhage. The severity of the bleeding manifestations correlates with the FII levels. Thromboembolic manifestations have been described in case of dysprothrombinemia.
Etiology
Inherited FII deficiency is caused by mutations in the F2 gene (11p11-q12) encoding prothrombin.
Diagnostic methods
Diagnosis is based on prolonged prothrombin and activated partial thromboplastin times (PT, aPTT) and on low FII coagulant activity measured using a PT based assay. Molecular testing is available, but is unnecessary for diagnosis.
Differential diagnosis
Differential diagnoses include deficiencies of factors V, VII, X, VIII, IX, XI, XIII or acquired deficiencies in FII (lupus anticoagulant).
Antenatal diagnosis
Prenatal diagnosis is available for the most severe forms.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% risk of having an affected child at each pregnancy.
Management and treatment
Prothrombin Complex Concentrates (PCCs) or fresh frozen plasma (if PCCs are not available) are usually used to treat hemorrhagic episodes.
Prognosis
Prognosis is good with early diagnosis and adequate treatment.

                            Last update: 
                            October 2020


                            - Expert reviewer(s): 
                            Pr Jenny GOUDEMAND
Congenital factor V deficiency (ORPHA:326)
Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
Epidemiology
Prevalence of homozygous forms is estimated at 1/1,000,000. Both sexes are equally affected.
Clinical description
Congenital FV deficiency can manifest at any age, with the most severe forms manifesting early in life. Common clinical signs include epistaxis, bruising, mucosal bleeding, soft tissue bleeding, and hemarthrosis. Excessive and prolonged bleeding during or following surgery, delivery or trauma are frequent. Women may present with menorrhagia. In severe forms of the disease, there can be a risk of intracranial, pulmonary or gastrointestinal bleedings. The severity of the bleeding manifestations correlates with the FV levels.
Etiology
Congenital FV deficiency is caused by mutations in the F5 gene (1q23) controlling the production of plasma FV.
Diagnostic methods
Diagnosis is based on prolonged prothrombin and activated partial thromboplastin times (PT, aPTT) and on low FV levels measured using a PT based assay. The bleeding time (BT) may be prolonged. Molecular testing is available, but unnecessary for diagnosis.
Differential diagnosis
Differential diagnoses include factor VIII deficiency, and combined deficiency of factor V and factor VIII (see these terms).
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Fresh frozen plasma (FFP) is the only treatment as FV concentrates are not available. In acute cases of severe bleeding, the addition of platelet concentrates may be helpful.
Prognosis
Prognosis is good with early diagnosis and adequate treatment.

                            Last update: 
                            October 2009


                            - Expert reviewer(s): 
                            Pr Jenny GOUDEMAND
Congenital factor X deficiency (ORPHA:328)
A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.
Epidemiology
Prevalence of homozygous forms is estimated at 1/1 000 000. Both sexes are equally affected.
Clinical description
Congenital FX deficiency manifests at any age but in general, severe forms of the disease manifest early in life. Patients may experience severe umbilical cord stump bleeding, recurrent epistaxis, soft-tissue hemorrhages, menorrhagia, easy bruising, intra cranial hemorrhages, hematuria, hemarthroses and excessive bleeding during or following surgery or delivery or trauma.
Etiology
Inherited congenital FX deficiency is caused by mutations in the F10 gene (13q34) controlling the production of plasma FX. The severity of the bleeding manifestations correlates with the FX level.
Diagnostic methods
Diagnosis is based on prolonged prothrombin, activated partial thromboplastin, and Russell viper venom times (PT, aPTT, RVVT), and on reduced levels of FX. Molecular testing is available, but unnecessary for diagnosis.
Differential diagnosis
Differential diagnoses include deficiencies of factors II, V, VII, VIII, IX, XI, XIII or acquired deficiencies in FX (amyloidosis).
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% risk of having an affected child at each pregnancy. Heterozygote patients most often remain asymptomatic.
Management and treatment
Prothrombin Complex Concentrates (PCCs) or fresh frozen plasma (if PCCs are not available) are usually used to treat hemorrhagic episodes. A plasma-derived FX concentrate is now available.
Prognosis
Prognosis is good with early diagnosis and adequate treatment.

                            Last update: 
                            October 2020


                            - Expert reviewer(s): 
                            Pr Jenny GOUDEMAND
Congenital factor XI deficiency (ORPHA:329)
A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
Epidemiology
Prevalence of homozygous forms is estimated at 1/1,000,000. The disease is more frequent in the Ashkenazy Jewish population where the frequency of partial deficiency is 8%. The disease affects both sexes.
Clinical description
Bleeding may manifest at any age, usually occuring after circumcision, dental extractions, trauma, or surgery (in particular surgery in the otorhinological and urogenital areas). Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate. Undiagnosed and untreated patients can develop significant hematomas after a surgical procedure.
Etiology
Congenital FXI deficiency is caused by mutations in the F11 gene (4q35.2) controlling the production of plasma FXI. Unlike in most factor deficiencies, the severity of the bleeding manifestations is poorly correlated with the FXI level.
Diagnostic methods
Diagnosis is based on a prolonged activated partial thromboplastin time (aPTT), and on reduced levels of FXI. FXI levels are < 20 IU/dL in severe defects and range between 20 and 60 IU/dL in partial deficiencies. Molecular testing is available, but unnecessary for diagnosis.
Differential diagnosis
Differential diagnoses include deficiencies of factors II, V, VII, X, VIII, IX, XIII, combined deficiency of factor V and factor VIII, von Willebrand disease and platelet function disorders.
Genetic counseling
Transmission is mainly autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% risk of having an affected, homozygous child at each pregnancy. Heterozygous patients with bleeding symptoms have also been observed, which suggests an autosomal dominant mode of transmission with variable penetrance.
Management and treatment
Patients may require treatment when dental extraction or surgery is planned. Factor XI concentrates or fresh frozen plasma is usually used. Low doses recombinant factor VIIa have been also used. Antifibrinolytics (aminocaproic acid, tranexamic acid) are also helpful as FXI deficiency leads to a hyperfibrinolytic state.
Prognosis
Prognosis is good, as bleeding symptoms are usually moderate.

                            Last update: 
                            October 2020


                            - Expert reviewer(s): 
                            Pr Jenny GOUDEMAND
Congenital factor XII deficiency (ORPHA:330)
A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.