72,234 articles
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, or VPS45 deficiency (SCN5, OMIM 615285), is an autosomal recessive primary immunodeficiency from biallelic VPS45 mutations at 1q21.2, causing G-CSF-refractory severe congenital neutropenia, myelofibrosis, and renal extramedullary hematopoiesis.
Congenital oculomotor nerve palsy
Congenital oculomotor nerve palsy (congenital third cranial nerve palsy, congenital CNIII lesion) is a rare neonatal disorder causing ptosis, ophthalmoplegia, strabismus, and amblyopia, typically unilateral, often with aberrant regeneration.
Congenital optic atrophy
Congenital optic atrophy (ICD-11 9C40.B0) is optic nerve axon loss present from birth or inherited, mainly autosomal dominant optic atrophy (OPA1) and Leber hereditary optic neuropathy, distinct from optic nerve hypoplasia.
Congenital orbital cyst
Congenital orbital cyst (ICD-11 9A23.0, 先天眼窩嚢胞): developmental orbital cyst from sequestered embryonic ectoderm; commonest childhood orbital mass, mainly dermoid; six epithelial subtypes, excised surgically.
Congenital pancreatic cyst
Congenital pancreatic cyst (true congenital pancreatic cyst, ORPHA:313906) is an extremely rare, usually single, unilocular epithelial-lined pancreatic cyst not communicating with the ducts, presenting neonatally or in infancy, sometimes with von Hippel-Lindau or polycystic kidney disease.
Congenital panfollicular nevus
Congenital panfollicular nevus is a very rare, benign skin tumor disorder, first described in 2005, causing large pink-tan nodular lesions present at birth on the neck, scalp, or hand, treated by surgical excision.
Congenital patella dislocation
Congenital patella dislocation, also called fixed congenital patellar dislocation, is a rare (<1/1,000,000) birth malformation with permanent, irreducible lateral kneecap dislocation, treated surgically by lateral release and extensor realignment.
Congenital pericardial defect
Congenital pericardial defect, also called pericardial agenesis, is a rare birth condition in which the sac around the heart is partly or completely missing; it affects fewer than 1 in 10,000 people.
Congenital peritoneal encapsulation
Congenital peritoneal encapsulation (CPE, ORPHA:697986) is a rare congenital malformation in which an accessory peritoneal membrane encases the small bowel; first described by Cleland in 1868, with about 45 reported cases, usually asymptomatic but a rare cause of small bowel obstruction.
Congenital pes cavus
Congenital pes cavus (ICD-11 LB98.3), also called cavus or hollow foot, is a high foot arch that does not flatten with weight bearing; often neurological in origin, most commonly Charcot-Marie-Tooth disease.
Congenital pes planus
Congenital pes planus (congenital flat foot, ICD-11 LB98.1) is an antenatal failure of foot arch development producing severe rigid flatfoot, distinguished from the common, benign flexible flatfoot of childhood that needs only reassurance.
Congenital pneumonia
Congenital pneumonia (ICD-11 KB24, ICD-10 P23) is fetal lung infection acquired by ascending spread across the chorioamnion or transplacentally, presenting within 48 hours of birth; group B streptococcus is the most common organism.
Congenital portosystemic shunt
Congenital portosystemic shunt (CPSS, Abernethy malformation) is a rare vascular malformation diverting portal blood past the liver into systemic veins, causing hyperammonemia, liver tumors, and portopulmonary hypertension; treated by shunt closure or transplant.
Congenital prekallikrein deficiency
Congenital prekallikrein deficiency (Fletcher factor deficiency, PKK deficiency), a rare autosomal recessive KLKB1-related coagulation disorder causing isolated prolonged aPTT with normal prothrombin time and usually no bleeding.
Congenital primary aphakia
Congenital primary aphakia (CPAK, OMIM 610256) is a rare birth defect in which the eye's lens never forms, caused mainly by autosomal recessive FOXE3 variants, with anterior segment aplasia, microphthalmia, and glaucoma.
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome, or MYSM1 deficiency (OMIM 618116), a rare autosomal recessive IBMFS with neonatal anemia, B-cell deficiency, skeletal anomalies, and MDS/AML progression.
Congenital pseudoarthrosis of the clavicle
Congenital pseudoarthrosis of the clavicle (CPC), also called congenital pseudarthrosis of the clavicle, is a rare failure of union of the clavicle's ossification nuclei, right-sided in over 90% of cases, with surgical union achieved in 87.4%.
Congenital ptosis
Congenital ptosis, also called congenital blepharoptosis, is upper eyelid drooping present at birth, usually from dystrophic levator palpebrae superioris muscle. Unilateral in about 75% of isolated cases; graded by MRD1; treated with levator resection or frontalis sling; risk includes amblyopia.
Congenital pulmonary airway malformation
Congenital pulmonary airway malformation (CPAM), formerly CCAM, is the most common congenital lung malformation, a cystic or solid prenatal lung lesion classified into five Stocker types and managed by resection or observation.
Congenital pulmonary lymphangiectasia
Congenital pulmonary lymphangiectasia (CPL), also called pulmonary lymphangiectasis, is a rare autosomal recessive developmental lung disorder with dilated subpleural, interlobar, perivascular, and peribronchial lymphatics, causing neonatal respiratory failure, chylothorax, and hydrops fetalis.
Congenital pulmonary regurgitation
Congenital pulmonary regurgitation (ICD-11 LA8A.01) is a rare birth defect in which the pulmonary valve leaks blood back into the right ventricle; mechanisms include annular dilation, prolapse, and leaflet underdevelopment, with CMR-based surveillance and eventual valve replacement.
Congenital pulmonary sequestration
Congenital pulmonary sequestration (bronchopulmonary sequestration, ICD-10 Q33.2): nonfunctioning lung tissue lacking connection to the tracheobronchial tree, supplied by anomalous systemic arteries; intralobar and extralobar forms.
Congenital pulmonary valvar stenosis
Congenital pulmonary valvar stenosis (pulmonary valve stenosis, ICD-11 LA8A.00) is a congenital narrowing of the pulmonary valve, graded by Doppler gradient (64 mmHg), treated mainly with balloon valvuloplasty.
Congenital pulmonary vein atresia
Congenital pulmonary vein atresia: rare congenital obstruction of pulmonary veins at the left atrial junction, from failed common pulmonary vein incorporation; forms include common, unilateral, and individual atresia, presenting with tachypnea, pneumonia, or hemoptysis.
Congenital rectovaginal fistula
A congenital rectovaginal fistula is an abnormal connection between the rectum and vagina present from birth, a rare variant of anorectal malformations often confused with rectovestibular fistula and cloaca.
Congenital renal artery stenosis
Congenital renal artery stenosis, also called congenital renovascular hypoplasia, is a rare narrowing of the renal artery from birth causing severe hypertension and kidney failure in newborns.
Congenital renal failure
Congenital renal failure is a severe, permanent loss of kidney function present at or before birth, usually caused by renal dysplasia and often requiring dialysis or transplant.
Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma (CRIE), also called ichthyosis with confetti or ichthyosis variegata, is an extremely rare autosomal dominant KRT10/KRT1 ichthyosis with revertant mosaicism producing confetti-like spots of normal skin.
Congenital retinal aneurysm
Congenital retinal aneurysm (ICD-11 LA13.5, ICD-10 Q14.1) is a rare developmental dilation of a retinal artery, distinguished from acquired macroaneurysms of hypertensive elderly patients and linked to congenital macrovessels and FRAM.
Congenital retinal arteriovenous communication
Congenital retinal arteriovenous communication (retinal racemose hemangioma, Wyburn-Mason syndrome when cerebral AVMs coexist): a rare unilateral retinal malformation with direct artery-vein shunting and no capillaries, prevalence under 1 per million, ICD-10 Q14.1.