TaoMedAI/RareMedData huggingface dataset:
Confetti-like macular atrophy (ORPHA:221142)
A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis.
Congenital abducens nerve palsy (ORPHA:440233)
A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.
Congenital achiasma (ORPHA:324353)
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (ORPHA:90793)
A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.
Congenital agenesis of the scrotum (ORPHA:495879)
A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.
Congenital alpha2-antiplasmin deficiency (ORPHA:79)
A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).
Congenital alveolar capillary dysplasia (ORPHA:210122)
Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
Congenital amyoplasia (ORPHA:488586)
A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.
Congenital analbuminemia (ORPHA:86816)
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
Epidemiology
Prevalence has been estimated at approximately 1 case per million population, with less than 50 cases being reported in the literature so far. The disorder occurs with no geographic, sex or ethnic predilection.
Clinical description
In the majority of cases, CAA is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs and biochemical abnormalities: fatigue, low blood pressure, edema, increased concentration of several plasma proteins and a prolonged albumin half-life. HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The mildness of the clinical manifestations is attributed to the compensatory increase in hepatic biosynthesis of other plasma proteins, notably a compensatory increase in serum globulin concentrations. However, CAA patients may develop lipodystrophy and hypercholesterolemia, possibly leading to premature atherosclerosis and cardiovascular events. Rarely, CAA may be complicated by hypercoagulability, osteoporosis and respiratory tract infections. The disorder appears to be more severe in the fetus or during early infancy, as intrauterine growth retardation and intrauterine death have been reported.
Etiology
The disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3). More than ten different causative mutations have been identified to date. The Kayseri mutation (a homozygous AT deletion at nucleotides c.228-229, the 91st and 92nd bases of exon 3) appears to be the most common cause of analbuminemia in humans.
Diagnostic methods
Diagnosis is based on laboratory analysis of blood specimens (albumin immunoassays and serum protein electrophoresis). DNA analysis is required for identification of the mutation involved.
Differential diagnosis
The differential diagnosis should include a wide number of pathological conditions that present with reduction of HSA (glomerulonephritis, nephrosis, ascites, systemic lupus erythematosus, intestinal lymphangiectasia, and protein-losing enteropathies; see these terms).
Genetic counseling
CAA is transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases with available genealogic data.
Management and treatment
CAA is a relatively benign and tolerable condition. Management aims at prophylaxis and treatment of the possible cardiovascular complications related to hypercholesterolemia and atherosclerosis. Drugs that bind to the albumin plasma protein fraction should be used with caution in patients with CAA.

                            Last update: 
                            November 2008
Congenital anomaly of the tricuspid valve chordae (ORPHA:99055)
A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.
Congenital aortic valve stenosis (ORPHA:3093)
A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.
Congenital aortopulmonary window (ORPHA:2037)
A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.
Congenital arteriovenous fistula (ORPHA:98731)
A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.
Congenital atransferrinemia (ORPHA:1195)
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Epidemiology
The prevalence is unknown. To date, there have been 16 reported cases from 14 families.
Clinical description
Disease onset usually occurs in infancy or early childhood. Only one reported patient was diagnosed at the age of 20. The presenting manifestations are those of anemia such as fatigue, anorexia, irritability, tachycardia, systolic murmur and pallor. Growth retardation, hepatomegaly and recurrent infections are other frequent manifestations of the disease. In undiagnosed individuals, iron overload can lead to liver cirrhosis, heart failure and arthropathy. Hypothyroidism and splenomegaly have also been reported separately in two isolated cases. Death can occur due to congestive heart failure or pneumonia.
Etiology
Congenital atransferrinemia is due to mutations in the TF gene (3q21) encoding TF, a blood protein necessary for the proper transport of iron to the liver, spleen, and bone marrow. Without the synthesis of TF, there is a reduction of iron delivery to developing erythroid precursors in bone marrow, which results in reduced hemoglobin synthesis and consequently to anemia and iron storage in peripheral tissues (secondary hemochromatosis).
Diagnostic methods
Diagnosis is based on laboratory testing indicating anemia as well as a serum TF level of less than 35mg/dl. An enlarged liver, due to hemosiderosis may be noted on clinical examination in some cases. Molecular genetic testing can identify a mutation in the TF gene, confirming the diagnosis.
Differential diagnosis
Differential diagnoses include other conditions that manifest with hypotransferrinemia such as GRACILE syndrome and nephrotic syndromes (see these terms) and, in adults, those suffering from chronic alcoholism.
Antenatal diagnosis
Prenatal diagnosis for at-risk pregnancies requires prior identification of the disease-causing mutations in the family.
Genetic counseling
Congenital atransferrinemia is inherited in an autosomal recessive manner and genetic counseling is available.
Management and treatment
There is no cure for congenital atransferrinemia. Treatment usually involves monthly phlebotomies followed by infusions of whole plasma or purified apotransferrin which remove excess iron and replenish TF levels, allowing for the proper formation of hemoglobin. Treatment is life-long and regular follow-up is recommended.
Prognosis
With proper treatment the prognosis is good but due to the small number of patients, long-term complications remain unknown. .

                            Last update: 
                            November 2013


                            - Expert reviewer(s): 
                            Dr Mayka SÁNCHEZ FERNÁNDEZ
Congenital autosomal recessive small-platelet thrombocytopenia (ORPHA:566192)
A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.
Congenital axonal neuropathy with encephalopathy (ORPHA:538101)
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.
Congenital bile acid synthesis defect type 3 (ORPHA:79302)
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.
Epidemiology
To date, only 2 cases of this disorder have been reported.
Clinical description
The index case was a 10-week-old infant with severe progressive cholestasis, hepatosplenomegaly, coagulopathy, cirrhosis and liver synthetic failure from early infancy. Serum transaminases (AST, ALT) were markedly elevated and gamma-GT was normal. Liver histology showed cholestasis, extensive portal fibrosis, inflammation and giant cell transformation, as well as bile duct proliferation.
Etiology
BAS defect type 3 is caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive.
Diagnostic methods
Diagnosis, based on analysis of urine using liquid secondary ionization mass spectrometry (LSIMS) shows sulfate and glycosulfate conjugates of unsaturated monohydroxy-cholenoic acids (3beta-hydroxy-5-cholenoic and 3beta-hydroxy-5-cholestenoic acids) and an absence of primary bile acids.
Management and treatment
This anomaly of bile acid synthesis is particularly severe and is not treatable by primary bile acid therapy.

                            Last update: 
                            January 2011


                            - Expert reviewer(s): 
                            Pr James HEUBI
Congenital bile acid synthesis defect type 4 (ORPHA:79095)
Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Epidemiology
Five cases have been reported to date: two siblings presenting with neonatal cholestasis and three adults with neurological disease.
Clinical description
The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, hematochezia and mild cholestasis, whereas adults present with various neurological disorders. It is possible that the adults had undocumented mild liver disease and fat-soluble vitamin deficiency in earlier life that led to neurological disease.
Etiology
BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1).
Diagnostic methods
Diagnosis is based on liquid secondary ionization mass spectrometry (LSIMS), gas chromatography-mass spectrometry (GC-MS) and electrospray ionization-tandem mass spectrometry analysis of urine, serum and bile.
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Treatment is based on primary bile acid therapy with cholic acid. Dietary restriction of phytanic and pristanic acids is likely to be necessary in the long term to prevent neurotoxicity.

                            Last update: 
                            September 2011


                            - Expert reviewer(s): 
                            Pr James HEUBI
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome (ORPHA:514352)
A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.
Congenital brain dysgenesis due to glutamine synthetase deficiency (ORPHA:71278)
A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.
Congenital cataract microcornea with corneal opacity (ORPHA:289499)
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.
Congenital cataract-anterior segment dysgenesis syndrome (ORPHA:162)
Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.
Epidemiology
This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations.
Etiology
The syndrome is caused by dysfunction of the PITX3 gene (localised to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye.
Genetic counseling
The disorder is transmitted as an autosomal dominant trait.
Management and treatment
The cataract can be managed by classical surgery. Yearly monitoring of ocular tonus is advised; hypertonia is treated classically when it appears.
Prognosis
The prognosis is good if the disease is correctly treated, but can lead to blindness if diagnosis is delayed.

                            Last update: 
                            July 2006


                            - Expert reviewer(s): 
                            Dr Pierre BITOUN
Congenital cataract-hearing loss-severe developmental delay syndrome (ORPHA:300313)
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome (ORPHA:330054)
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome (ORPHA:521432)
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
Congenital central hypoventilation syndrome (ORPHA:661)
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.
Epidemiology
The incidence is estimated to be at 1 of 200 000 livebirths.
Clinical description
Association with a Hirschsprung's disease is observed in 16% of the cases.
Etiology
A heterozygous mutation of PHOX-2B gene is found in 90% of the patients.
Prognosis
Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

                            Last update: 
                            February 2006


                            - Expert reviewer(s): 
                            Dr Ha Thi-Tuyet TRANG
Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.
Congenital cervical spinal stenosis (ORPHA:831)
Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.
Congenital chloride diarrhea (ORPHA:53689)
A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.