72,234 articles
Congenital left ventricular aneurysm
Congenital left ventricular aneurysm is a rare heart malformation, present from birth, in which part of the left ventricular wall bulges outward through a wide neck.
Congenital left ventricular outflow tract obstruction
Congenital left ventricular outflow tract obstruction (LVOTO): blockage of left ventricular outflow at subvalvular, valvular, or supravalvular levels, including bicuspid aortic valve stenosis, subaortic membrane, and coarctation; treated by resection, valvotomy, or Ross/Konno procedures.
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome (OMIM 616266), congenital limbs-face contractures-hypotonia-developmental delay syndrome, is a rare autosomal dominant NALCN channelopathy with congenital contractures, hypotonia, respiratory distress, and developmental delay, caused by de novo missense variants.
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital lipoid adrenal hyperplasia due to STAR deficency (lipoid CAH, OMIM 201710): autosomal recessive STAR gene mutations blocking mitochondrial cholesterol import, causing infant salt-wasting adrenal crisis, 46,XY sex reversal, and enlarged lipid-laden adrenals.
Congenital lobar emphysema
Congenital lobar emphysema (CLE), or congenital lobar overinflation, a rare lung malformation (1/20,000-30,000 births) causing lobar hyperinflation from bronchial ball-valve obstruction; lobectomy for severe cases, observation for mild ones.
Congenital macroglossia
Congenital macroglossia is abnormally large tongue present at birth. Main causes: Beckwith-Wiedemann syndrome (about 90% of cases), aneuploidy, lymphatic malformations; managed conservatively or by glossectomy.
Congenital malaria
Congenital malaria is malaria infection passed directly from mother to child before or during birth, diagnosed when parasites appear in a newborn's blood in the first week of life.
Congenital megacalycosis
Congenital megacalycosis, also called megacalycosis or Puigvert disease, is a rare non-obstructive congenital dilatation and increased number of renal calyces with a normal pelvis and ureter, male predominant, usually benign.
Congenital megalourethra
Congenital megalourethra is a rare male urogenital anomaly with dilation of the penile urethra from absent erectile tissue, classified as scaphoid or fusiform, causing functional urinary obstruction.
Congenital megaprepuce
Congenital megaprepuce (isolated congenital buried penis) is a rare male congenital penile malformation with redundant inner foreskin, phimosis, and preputial ballooning during voiding; treated surgically, circumcision avoided.
Congenital melanocytic naevus
Congenital melanocytic naevus (CMN), congenital melanocytic nevus: benign melanocyte proliferation present at birth, 1-6% of births, classified small to giant by adult size; NRAS-driven, with size-dependent melanoma and neurocutaneous melanocytosis risk.
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Congenital membranous nephropathy due to fetomaternal anti-NEP alloimmunization (FMAIG, ORPHA:69063): rare neonatal glomerular disease caused by maternal anti-neutral endopeptidase antibodies from MME-mutant, NEP-deficient mothers crossing the placenta, causing nephrotic syndrome at birth that usually improves within weeks.
Congenital mesoblastic nephroma
Congenital mesoblastic nephroma (CMN), also called mesoblastic nephroma, is a rare mesenchymal kidney tumor of infants, the most common renal tumor under 6 months, with classic, cellular, and mixed subtypes and the ETV6-NTRK3 fusion in cellular cases.
Congenital methaemoglobinaemia
Congenital methaemoglobinaemia is an inherited blood disorder in which hemoglobin is locked in a form that cannot release oxygen to tissues, causing cyanosis from birth.
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome, or asparagine synthetase deficiency (ASNSD), is an ultrarare autosomal recessive ASNS-gene disorder causing progressive microcephaly, intractable seizures, spastic quadriplegia, and early death.
Congenital microcoria
Congenital microcoria (MCOR, congenital miosis, MIM 156600) is a rare autosomal dominant iris development disorder with bilateral pupils under 2 mm that resist dilation, linked to 13q32.1 deletions affecting TGDS and GPR180, with myopia in 80% and glaucoma in 30% of cases.
Congenital microgastria
Congenital microgastria, a rare foregut developmental defect causing a tubular, small-capacity stomach, presenting with vomiting, reflux, and failure to thrive; often syndromic (asplenia, limb defects), treated with Hunt-Lawrence pouch.
Congenital midnasal stenosis
Congenital midnasal stenosis (CMNS, ORPHA:717646) is a rare congenital bony narrowing of the mid nasal cavity in neonates, first described in isolation in 2004, causing nasal obstruction and stertor, usually managed conservatively.
Congenital mitral regurgitation
Congenital mitral regurgitation, also called congenital mitral valve regurgitation (ICD-11 LA87.10), is rare backward flow through a malformed mitral valve present at birth; often dysplastic, frequently associated with other cardiac lesions, treated by valve repair.
Congenital muscular dystrophy
Congenital muscular dystrophy (CMD): a group of genetic muscle-wasting disorders present at birth or before age 2, classified by genes for laminin alpha2, collagen VI, dystroglycan glycosylation, and SEPN1; progressive, with no curative subtype-specific treatment.
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to LMNA mutation (L-CMD, OMIM 613205) is a rare autosomal dominant laminopathy causing infantile axial weakness, dropped-head syndrome, spinal rigidity, respiratory failure, and arrhythmias; almost all cases are de novo LMNA mutations.
Congenital muscular dystrophy type 1B
Congenital muscular dystrophy type 1B (MDC1B, CMD1B), a rare autosomal recessive congenital muscular dystrophy with partial merosin deficiency, causing proximal weakness, contractures, muscle hypertrophy, and early respiratory failure.
Congenital muscular dystrophy with hyperlaxity
Congenital muscular dystrophy with hyperlaxity (CMDH, ORPHA:371007) is a rare autosomal recessive congenital muscular dystrophy mapped to 3p23-21, marked by proximal contractures with distal joint hyperlaxity, first found in French-Canadians.
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy with intellectual disability (CMD-MR, ORPHA:370968) is a rare autosomal recessive dystroglycanopathy with neonatal or infantile hypotonia, weakness, mild to severe intellectual disability, low alpha-dystroglycan on muscle staining, and elevated creatine kinase.
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy with intellectual disability and severe epilepsy, also DPM2-CDG or CDG type Iu (MIM 615042), is an ultra-rare autosomal recessive DPM2 glycosylation disorder first described by Barone in 2012, causing hypotonia, intractable epilepsy, microcephaly, and early death.
Congenital muscular dystrophy, Fukuyama type
Fukuyama congenital muscular dystrophy (FCMD, 福山型先天性筋ジストロフィー), also called FKTN-related congenital muscular dystrophy, is an autosomal recessive dystroglycanopathy caused by FKTN founder mutations, common in Japan, causing muscle weakness, cobblestone lissencephaly, and early death.
Congenital myasthenic syndrome
Congenital myasthenic syndrome (CMS, congenital myasthenia): inherited genetic disorders of neuromuscular junction signaling causing fatigable weakness from birth or childhood; over 35 genes, usually autosomal recessive, treatment tailored to genetic subtype.
Congenital myopathy with excess of thin filaments
Congenital myopathy with excess of thin filaments, or actin-accumulation myopathy (AFAM, nemaline myopathy 3, OMIM 161800), a rare ACTA1-related congenital myopathy with actin filament aggregates, usually de novo dominant, often fatal in infancy.
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with internal nuclei and atypical cores (CNM4, centronuclear myopathy type 4; OMIM 614807) is a rare autosomal dominant skeletal muscle disease caused by CCDC78 mutations, marked by neonatal hypotonia, distal weakness, myalgias, preserved ambulation, and biopsies with central nuclei and atypical cores.
Congenital nephrotic syndrome, Finnish type
Congenital nephrotic syndrome, Finnish type (Finnish congenital nephrosis, CNF, OMIM 256300) is an autosomal recessive NPHS1/nephrin disorder causing prenatal proteinuria, edema, and early kidney failure, frequent in Finland via Fin-major and Fin-minor founder mutations.