Opitz G/BBB syndrome | About the Disease | GARD - Genetic and …
Opitz G/BBB syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Opitz G/BBB syndrome - Wikipedia
Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic disorder that will affect physical structures along the midline of the body. [1]
MID1-Related Opitz G/BBB Syndrome - GeneReviews® - NCBI Bookshelf
2004年12月17日 · MID1-related Opitz G/BBB syndrome (MID1-OS) is characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects.
Opitz G/BBB syndrome - MedlinePlus
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. Explore symptoms, inheritance, genetics of this condition.
Opitz Syndrome - Children's Hospital of Philadelphia
Opitz syndrome is a genetic condition characterized by widely spaced eyes and, in males, hypospadias (an abnormal opening of the urethra on the underside of the penis that can sometimes extend as a cleft through the scrotum). Opitz is also known as oculo-genito-laryngeal syndrome and BBB/G compound syndrome.
X-linked Opitz G/BBB Syndrome - Symptoms, Causes, Treatment …
2023年7月25日 · X-linked Opitz G/BBB syndrome is a rare genetic disorder mainly characterized by facial differences, respiratory and genitourinary abnormalities as well as developmental delay or intellectual disabilities.
Opitz G/BBB syndrome
Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias.
Opitz G/BBB syndrome (Concept Id: CN263119) - National …
Opitz GBBB syndrome (GBBB) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005). [from OMIM]
Opitz G/BBB syndrome - NIH Genetic Testing Registry (GTR) - NCBI
Clinical resource with information about Opitz G/BBB syndrome and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB
MID1 -Related Opitz G/BBB Syndrome - PubMed
2023年10月19日 · Clinical characteristics: MID1 -related Opitz G/BBB syndrome (MID1 -OS) is characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects.
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