72,234 articles
Congenital right ventricular outflow tract obstruction
Congenital right ventricular outflow tract obstruction (RVOTO) blocks blood flow from the right ventricle to the pulmonary arteries; valvar pulmonary stenosis causes up to 90% of cases, graded mild under 36, moderate 36-64, severe over 64 mmHg.
Congenital rubella syndrome
Congenital rubella syndrome, or congenital rubella, is a group of birth defects caused by maternal rubella infection during pregnancy, most commonly cataracts, heart disease, and hearing loss.
Congenital self-healing reticulohistiocytosis
Congenital self-healing reticulohistiocytosis, or Hashimoto-Pritzker disease, is a benign skin-limited neonatal form of Langerhans cell histiocytosis first described in 1973, with spontaneously regressing CD1a-positive skin lesions and rare progression to multisystem disease.
Congenital sensorineural hearing loss
Congenital sensorineural hearing loss: permanent inner-ear or auditory-nerve hearing loss of ≥40 dB in the better ear present at birth; mostly genetic, with congenital CMV the leading non-genetic cause; treated with implants, valganciclovir, and now OTOF gene therapy.
Congenital short bowel syndrome
Congenital short bowel syndrome (CSBS) is a rare neonatal disorder with small bowel under 75 cm, causing diarrhea, vomiting, and failure to thrive. Caused mainly by CLMP (autosomal recessive) or FLNA (X-linked) mutations, usually with malrotation; 60% achieve enteral autonomy on parenteral nutrition weaning.
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
SIFD, congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, also called TRNT1 deficiency, is a rare autosomal recessive disorder with infantile microcytic sideroblastic anemia, B-cell lymphopenia, periodic fevers, and developmental delay, treated with transfusion, IVIG, anti-TNF drugs, or stem cell transplant.
Congenital single renal cyst
Congenital single renal cyst (ICD-11 LB30.2, ICD-10-CM Q61.01), also called congenital solitary renal cyst: a single kidney cyst noted in utero or from birth with no other urinary tract abnormality; a diagnosis of exclusion in children.
Congenital smooth muscle hamartoma
Congenital smooth muscle hamartoma (CSMH), a benign congenital dermal smooth muscle proliferation, presents as a hairy lumbosacral plaque, prevalence about 1/2600 births, no malignant risk, distinguished from Becker's nevus and melanocytic nevi.
Congenital sodium diarrhea
Congenital sodium diarrhea (CSD, NHE3 deficiency) is a rare inherited enteropathy with intractable watery diarrhea from birth, high fecal sodium, hyponatremia, and metabolic acidosis; genes SLC9A3, GUCY2C, SPINT2; under 50 cases reported.
Congenital spondylolisthesis
Congenital spondylolisthesis is the forward slippage of one vertebra on the vertebra below, caused by a birth malformation of the lumbosacral spine, typically at L5-S1.
Congenital stenosis of the inferior vena cava
Congenital stenosis of the inferior vena cava (ICD-10 Q26.0, ORPHA 99122) is a rare vascular anomaly narrowing the IVC, mostly at the diaphragmatic or hepatic segment, often with webs, collaterals, and deep vein thrombosis.
Congenital stromal corneal dystrophy
Congenital stromal corneal dystrophy (CSCD, congenital hereditary stromal dystrophy, Witschel dystrophy, OMIM 610048) is an extremely rare autosomal dominant DCN (decorin) disorder causing bilateral flaky corneal stromal clouding from birth and moderate to severe vision loss, treated with keratoplasty.
Congenital subglottic stenosis
Congenital subglottic stenosis is a birth-defect narrowing of the airway below the vocal cords at the cricoid cartilage, causing biphasic stridor; treated with dilation or cricotracheal resection.
Congenital subluxation of hip
Congenital subluxation of hip (ICD-11 LB74.1), part of developmental dysplasia of the hip (DDH): partial femoral head-acetabulum contact present at birth, about 10 per 1,000 births, treated with abduction bracing.
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltase deficiency (CSID, genetic sucrase-isomaltase deficiency) is a rare autosomal recessive SI-gene disorder impairing sucrose and starch digestion, causing osmotic diarrhea, bloating, and failure to thrive, treated with diet and sacrosidase.
Congenital syphilis
Congenital syphilis is fetal or newborn infection with Treponema pallidum passed during pregnancy, causing stillbirth, neonatal death, and deafness, blindness, and bone deformities; preventable by prenatal penicillin treatment, it has resurged in the US with nearly 4,000 cases in 2024.
Congenital temporomandibular joint ankylosis
Congenital temporomandibular joint ankylosis (congenital trismus, ORPHA:210576) is a rare disorder fusing the jaw joint at birth, restricting mouth opening to millimeters, causing facial asymmetry and feeding and breathing difficulty.
Congenital thrombocytopenia
Congenital thrombocytopenia is a reduced platelet count present from birth, caused by inherited defects in platelet production, with bleeding that ranges from mild to life threatening.
Congenital torticollis
Congenital torticollis, also called wry neck, is a prenatal neck postural deformity from unilateral sternocleidomastoid shortening, causing head tilt and contralateral rotation; treated mainly with early physical therapy stretching.
Congenital toxoplasmosis
Congenital toxoplasmosis: fetal Toxoplasma gondii infection acquired transplacentally during pregnancy. Triad of retinochoroiditis, hydrocephalus, intracranial calcifications; prenatal treatment reduces transmission and sequelae.
Congenital tracheal stenosis
Congenital tracheal stenosis (CTS) is a rare birth defect narrowing the trachea, usually from complete O-shaped cartilage rings. Treated mainly by slide tracheoplasty; in-hospital mortality about 6%.
Congenital tracheomalacia
Congenital tracheomalacia: excessive collapsibility of the trachea from abnormally soft or immature cartilage rings, present at birth. Also called primary tracheomalacia; causes expiratory stridor in infants, often resolves by age 2.
Congenital tricuspid regurgitation
Congenital tricuspid regurgitation (ICD-11 LA87.00), also called congenital tricuspid insufficiency, is backward flow through the tricuspid valve present from birth. Extremely rare (123 published cases), caused by Ebstein anomaly, valve dysplasia, or aberrant chordal tethering; treated by valve repair.
Congenital tricuspid stenosis
Congenital tricuspid stenosis, also called congenital tricuspid valve stenosis (ICD-10 Q22.4), is a rare birth malformation narrowing the tricuspid valve orifice, obstructing right ventricular inflow, usually with other cardiac defects.
Congenital tricuspid valve dysplasia
Congenital tricuspid valve dysplasia (TVD), a rare congenital tricuspid malformation with myxoid leaflet thickening in a normally delaminated valve, distinct from Ebstein anomaly; 0.3-0.6% of congenital heart defects, presenting from fetal life to adulthood.
Congenital trigeminal anesthesia
Congenital trigeminal anesthesia (ORPHA 231013, ICD-10 G50.8) is a rare neuro-ophthalmological disorder: congenital sensory deficit of the trigeminal nerve causing painless corneal ulcers, neurotrophic keratitis, and poorly healing facial wounds from infancy.
Congenital trochlear nerve palsy
Congenital trochlear nerve palsy (congenital superior oblique palsy, congenital fourth nerve palsy, ORPHA:98686): birth-present fourth cranial nerve dysfunction causing vertical strabismus, head tilt, and diplopia, often decompensating in adulthood; about 73% show trochlear nerve absence on MRI.
Congenital tuberculosis
Congenital tuberculosis is tuberculosis acquired before or during birth through the umbilical cord or infected amniotic fluid, presenting within 3 weeks of life with high mortality.
Congenital tufting enteropathy
Congenital tufting enteropathy, or intestinal epithelial dysplasia, is a rare autosomal recessive infantile enteropathy causing intractable diarrhea, caused mainly by EPCAM mutations and SPINT2 in syndromic cases, requiring parenteral nutrition.
Congenital valgus deformities of feet
Congenital valgus deformities of feet (ICD-11 LB98.2; ICD-10-CM Q66.6) are birth defects with outward twisting of the foot, including congenital hallux valgus, metatarsus valgus, and talipes calcaneovalgus.