1,521 articles
Coloboma of eyelid
Coloboma of eyelid (eyelid coloboma, coloboma palpebrale): a congenital full-thickness eyelid margin defect, usually upper lid, occurring in roughly 0.2-0.8 per 10,000 births, isolated or syndromic (Fraser, Goldenhar, Treacher Collins, CHARGE), risking exposure keratopathy and amblyopia.
Coloboma of iris
Coloboma of iris (iris coloboma, ICD-10 Q13.0) is a congenital gap in the iris from failed embryonic fissure closure, giving a keyhole pupil, photophobia; treated with tinted contacts or surgery.
Commissural lip fistula
Commissural lip fistula is a rare congenital malformation with an abnormal tract opening at the corner of the mouth, lined by lip mucosa and prone to infection.
Complete septate uterus
Complete septate uterus (total septate uterus, ORPHA:180126, ICD-10 Q51.2) is a congenital malformation where a septum runs from the uterine fundus to the cervical os, raising miscarriage risk; treated by hysteroscopic resection.
Complete uterovaginal prolapse
Complete uterovaginal prolapse (procidentia, ICD-11 GC40.34) is stage 3-4 descent of uterus, cervix, and upper vagina below the hymen or with complete eversion, caused mainly by childbirth-related pelvic floor damage and treated with pessaries or prolapse surgery.
Complex renal cyst
Complex renal cyst, also called Bosniak IIF or higher cystic renal mass, a kidney cyst with septa, thickened wall, or enhancement. Malignancy risk rises from about 7% (IIF) to 55% (III) and 91% (IV); IIF needs imaging follow-up.
Compression facies
Compression facies (ICD-11 LA55; French Faciès de compression; Chinese 面受压[扁脸]) is a facial structural developmental anomaly caused by neurovascular compression of the facial nerve, characterized by facial spasm and abnormal facial expression.
Congenital agenesis of the scrotum
Congenital agenesis of the scrotum (congenital scrotal absence, ORPHA:495879) is a rare urogenital malformation with absent scrotal rugae and cryptorchid or ectopic testes; hemiscrotal agenesis is the unilateral form with intact midline raphe.
Congenital bilateral absence of vas deferens
Congenital bilateral absence of the vas deferens (CBAVD): absence of both vasa deferentia causing obstructive azoospermia; a CFTR-related disorder linked to cystic fibrosis mutations, also associated with ADGRG2; treated by sperm retrieval with ICSI.
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 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 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 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 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 disseminated pyogenic granuloma
Congenital disseminated pyogenic granuloma (CDPG, ORPHA:714692) is a rare benign vascular tumor disorder with multiple congenital pyogenic granulomas of skin, brain, and viscera, GLUT1-negative, about 20 published cases.
Congenital diverticulum of pharynx
Congenital diverticulum of pharynx (pharyngeal pouch, ICD-11 LB11, ICD-10-CM Q38.7) is a rare antenatal developmental outpouching of the pharyngeal wall, distinct from pharyngeal pouch syndrome and from acquired Zenker's diverticulum.
Congenital hammer toe
Congenital hammer toe: a toe deformity present at birth with downward flexion at the proximal interphalangeal joint; SNOMED CT 85280007, ICD-10 Q66.8/Q66.89; treated by splinting or surgery.
Congenital hydrocele
Congenital hydrocele (ICD-11 KC00) is fluid around a newborn's testicle(s) from failed obliteration of the processus vaginalis; communicating or noncommunicating, it usually resolves within the first year, with surgery reserved for persistence or hernia.
Congenital hydronephrosis
Congenital hydronephrosis, also called antenatal hydronephrosis or fetal urinary tract dilation, is prenatal dilation of the renal pelvis found in 1-2% of pregnancies, usually transient, most often from ureteropelvic junction obstruction, graded by SFU or UTD systems.
Congenital infiltrating lipomatosis of the face
Congenital infiltrating lipomatosis of the face (CIL-F, facial infiltrating lipomatosis) is a rare PIK3CA-related overgrowth disorder causing unilateral facial fat infiltration, bony hypertrophy, early tooth eruption, and high surgical recurrence.
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 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 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 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 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.
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 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.