72,234 articles
Congenital bile acid synthesis defect type 2
Congenital bile acid synthesis defect type 2 (CBAS2, BASD2, Δ4-3-oxosteroid 5β-reductase deficiency) is a rare autosomal recessive AKR1D1 defect causing neonatal cholestasis, treated with oral cholic acid.
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 3 (CBAS3, also called BASD3) is a rare autosomal recessive metabolic disorder in which CYP7B1 gene mutations cause severe cholestatic liver disease in infants.
Congenital bile acid synthesis defect type 4
Congenital bile acid synthesis defect type 4, also called AMACR deficiency (OMIM 214950, 614307), is an autosomal recessive peroxisomal disorder from AMACR gene variants, causing infantile cholestasis or adult retinitis pigmentosa, neuropathy, ataxia, and cognitive decline.
Congenital bowing of femur
Congenital bowing of femur (congenital femoral bowing; ICD-11 LB96.0, ICD-10-CM Q68.3) is an antenatal developmental abnormal angling of the femur, confirmed by imaging, occurring isolated or in skeletal dysplasias such as campomelic dysplasia.
Congenital bowing of long bones
Congenital bowing of long bones: prenatal curvature of tubular bones present at birth, coded ICD-10 Q68.5 and ICD-11 LB96.1. Occurs isolated, in skeletal dysplasias such as campomelic dysplasia and osteogenesis imperfecta, or as anterolateral tibial bowing preceding congenital pseudarthrosis.
Congenital bowing of tibia
Congenital bowing of tibia (ICD-11 LB96.1): bending of the tibial shaft present at birth. Anterolateral bowing risks fracture and congenital pseudarthrosis with NF1; posteromedial bowing is benign and self-resolving.
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome (serpentine-like syndrome, ORPHA:514352) is a rare, mostly neonatally fatal malformation combining short esophagus, intrathoracic stomach, and spinal rachischisis.
Congenital bronchomalacia
Congenital bronchomalacia is a birth-present weakness of bronchial cartilage causing excessive airway collapse, part of the airway malacia spectrum with tracheomalacia and tracheobronchomalacia, affecting at least 1 in 2,100 children.
Congenital cataract microcornea with corneal opacity
Congenital cataract microcornea with corneal opacity (CCMCO) is a rare inherited eye disorder in which cataract, small corneas, and corneal clouding cause blindness from birth.
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-hearing loss-severe developmental delay syndrome, or Huppke-Brendel syndrome, is a lethal autosomal recessive SLC33A1 copper-metabolism disorder with congenital cataracts, deafness, severe delay, hypotonia, and very low serum copper and ceruloplasmin.
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome, or Sengers syndrome, is a rare autosomal recessive mitochondrial disorder caused mainly by AGK mutations, featuring congenital cataracts, hypertrophic cardiomyopathy, myopathy, and lactic acidosis.
Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN, congenital cataracts-facial dysmorphism-neuropathy syndrome, is a rare autosomal recessive CTDP1 disorder seen almost exclusively in Roma people, causing congenital cataracts, facial dysmorphism, hypomyelinating neuropathy, and rhabdomyolysis risk.
Congenital central hypoventilation syndrome
Congenital central hypoventilation syndrome (CCHS, Ondine's curse, Haddad syndrome) is a rare autosomal dominant PHOX2B-related disorder of automatic breathing control, requiring lifelong ventilatory support, with Hirschsprung disease and neural crest tumor risk.
Congenital cervical spinal stenosis
Congenital cervical spinal stenosis (ORPHA:831, congenital narrowing of cervical spinal canal, ICD-10 Q06.8) is a rare neurological disease with cervical canal sagittal diameter under 14 mm, predisposing to myelopathy and trauma-induced cord injury.
Congenital chloride diarrhea
Congenital chloride diarrhea (Darrow-Gamble syndrome, CLD/CCD) is a rare autosomal recessive SLC26A3 disorder causing prenatal-onset watery diarrhea with fecal chloride over 90 mmol/L, hypochloremic hypokalemic metabolic alkalosis, treated with lifelong NaCl/KCl replacement.
Congenital chordee
Congenital chordee (ICD-10 Q54.4, ICD-11 LB54) is a birth condition of downward or lateral penile curvature over 30 degrees, caused by fibrous bands and ventral skin shortening, often with hypospadias; treated surgically when functional.
Congenital chylothorax
Congenital chylothorax (CCT), also called congenital chylothorax of the newborn, is chyle accumulation in the fetal or neonatal pleural space from lymphatic duct malformation; the leading cause of neonatal pleural effusion, incidence about 1:5,800-1:24,000, treated stepwise with drainage, MCT diet, octreotide, and surgery.
Congenital complete atrioventricular block
Congenital complete atrioventricular block (congenital heart block, CCAVB): fetal or neonatal AV conduction failure, usually from maternal anti-Ro/SSA anti-La/SSB antibodies, treated with pacemakers; prevalence 1 in 15,000–20,000 live births.
Congenital conductive hearing loss
Congenital conductive hearing loss (ICD-11 AB50.0) is hearing loss present at birth from external or middle ear malformations such as canal atresia or ossicular anomalies, occurring in about 1 per 11,000-15,000 patients, managed with amplification or surgery.
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly (Beals syndrome, Beals-Hecht syndrome) is a rare autosomal dominant connective tissue disorder caused by FBN2 variants, marked by congenital joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis, distinct from Marfan syndrome.
Congenital cornea plana
Congenital cornea plana (cornea plana congenita, CNA1/CNA2) is a rare bilateral flattening of the cornea causing high hyperopia; recessive CNA2 stems from KERA (keratocan) mutations, dominant CNA1 is milder and genetically unexplained.
Congenital corneal opacity
Congenital corneal opacity (CCO) is clouding of the cornea present at birth or within the first 4 weeks of life, also called congenital corneal opacification. Peters anomaly is its most common cause; key genes include PAX6, FOXC1, FOXE3, and B3GALTL.
Congenital coronary artery aneurysm
Congenital coronary artery aneurysm is a rare malformation present from birth in which a coronary artery segment is enlarged to over 1.5 times its normal caliber.
Congenital coxa vara
Congenital coxa vara, also called infantile or cervical coxa vara, is a rare birth hip deformity with a reduced femoral neck-shaft angle below 110 degrees, caused by osteochondrodysplasia of the femoral neck, treated by valgus osteotomy.
Congenital cyst of mediastinum
A congenital cyst of the mediastinum is a fluid-filled, epithelium-lined cavity present from birth, mostly foregut duplication cysts—bronchogenic, esophageal duplication, and neuroenteric—treated by surgical excision.
Congenital cystic eye
Congenital cystic eye, also called congenital anophthalmos with cyst, is a rare birth defect in which a cyst replaces the eye because the embryonic optic vesicle fails to invaginate.
Congenital dacryocele
Congenital dacryocele, also called congenital dacryocystocele, is a distended lacrimal sac in newborns from double nasolacrimal obstruction (Hasner and Rosenmüller valves), presenting as a bluish medial canthal mass, sometimes with intranasal cysts, dacryocystitis, or respiratory distress.
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a birth defect with a hole in the diaphragm allowing abdominal organs into the chest, causing pulmonary hypoplasia and hypertension; Bochdalek type, 1 in 2,500-3,300 births, treated with ventilation and surgical repair.
Congenital disorder of glycosylation
Congenital disorders of glycosylation (CDG), also called carbohydrate-deficient glycoprotein syndromes, are rare inherited metabolic diseases impairing glycosylation of proteins and lipids; about 200 disorders from 189 gene defects, mostly autosomal recessive and multisystem.
Congenital disorders of glycosylation, type II
Congenital disorders of glycosylation type II (CDG-II) are rare metabolic disorders in which N-linked glycans attached to proteins are improperly processed, mostly in the Golgi apparatus.