Congenital Anomalies
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Congenital Anomalies conditions
Cleft LipA cleft lip is a congenital facial malformation caused by incomplete fusion of the maxillary and medial nasal processes, often diagnosed at birth.Cleft PalateCleft palate is a congenital defect where the roof of the mouth fails to fuse, causing an opening that affects feeding, speech, and increases risk of ear infections.CryptorchidismCryptorchidism is the failure of one or both testes to descend into the scrotum, increasing risk of infertility and testicular cancer if untreated.EpispadiasA congenital malformation where the urethral opening is on the dorsal penis, epispadias often presents with urinary incontinence and requires surgical correction.HypospadiasHypospadias is a congenital malformation where the urethral opening is on the ventral penis, often causing abnormal urine flow and requiring surgical correction.Imperforate HymenA congenital disorder where the hymen lacks an opening, causing obstructed menstrual flow and primary amenorrhea in adolescent females.Patent UrachusPatent Urachus is a congenital anomaly where the urachus fails to close, causing urine leakage from the umbilicus and possible infection in newborns.Patent Vitelline DuctPatent Vitelline Duct is a congenital anomaly where the vitelline duct fails to close, causing a persistent connection between the ileum and the umbilicus.Pharyngeal Cleft CystA pharyngeal cleft cyst is a congenital neck mass from incomplete obliteration of the second pharyngeal cleft, often presenting as a painless lateral neck swelling.Pierre Robin SequencePierre Robin Sequence is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction, often leading to feeding and breathing difficulties.Treacher Collins SyndromeTreacher Collins Syndrome is a genetic disorder causing craniofacial deformities including underdeveloped cheekbones, jaw, and ear abnormalities due to TCOF1 gene mutations.Urachal CystUrachal cyst is a fluid-filled remnant of the embryonic urachus that can cause abdominal pain, infection, or a palpable midline mass near the umbilicus.Vesicourachal DiverticulumA vesicourachal diverticulum is a congenital bladder outpouching from incomplete urachal closure, often asymptomatic but prone to infection or stone formation.Vitelline Duct CystA vitelline duct cyst is a remnant of the embryonic yolk stalk causing an isolated cyst along the ileum, often asymptomatic but detectable on imaging.