Science Quiz / Birth Defects

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Can you name the birth defects associated with the descriptions?

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DescriptionBirth DefectFun Facts
blockage of esophagusdue to failure of foregut septation
abnormal remnant of yolk sac on small intestineusually asymtomatic
blockage in pyloric sphincter of stomachresults in vomiting
aorta and pulmonary trunk not separateddue to lack of outflow tract septation
urethral opening on ventral side of penisdue to failure of urethral fold fusion
short bones in digitsmany causes
protrusion of brain or membranes into large cyst on headdue to partial failure of neural tube closure in head
reduced or absent limb bonesassociated with thalidomide, due to lack of FGF4 and FGF8
narrowed pulmonary trunk from heartdue to misplaced outflow tract septum, results in cyanosis
accumulation of fluid in skull, large head
heart shaped uterusdue to partial failure of mullerian duct fusion
ring-shaped pancreas around the gutdue to lateral portion of foregut not being prevented from developing into a pancreas
defect in lumbar vertebrae leading to protrusion of meninges or spinal corddue to failure of neural tube closure in spine
narrow, non-existent anus
misshapen nails, kneecaps, elbowsdue to insufficient LMX1B
bone syndactyly, maxillary hypoplasia, craniosynostosis, oral/craniofacial abnormalitiesdue to mutations in FGFR2
abnormal openings between lips or roof of mouthdue to failures of palate shelf fusion
rectum, urinary tract, vagina fuseddue to failure of urorectal septum
abnormal connection between trachea and esophagusdue to failure of foregut septation
fingers or toes attached togethermany causes
bladder opens externallydue to failure in abdominal wall
testes fail to descend into scrotum
pulmonary stenosis, ventricular septal defect leading to right ventricle hypertrophy, overriding aortaresults from pulmonary stenosis and VSD
oddly shaped head and braindue to abnormal early skull closure
intestines fail to retract after herniation in development, covered by membranedue to failure of gut retraction
intestines protrude into scrotum
reversed body orientationdue to abnormal ventral node cilia
enlarged colon, lack of innervation in distal digestive tractdue to neural crest migration failure and lack of peristalsis
aorta and pulmonary trunk on wrong sides of heartdue to lack of outflow tract rotation
midline head and facial defect ranging from cleft lip to cyclopiadue to defect in hedgehog signaling in midline
various upper limb malformations, heart defectsdue to insufficient TBX5
small jaw, downward slanting eyesdue to defects in first branchial arch derivatives
absence and degeneration of brain and skulldue to failure of neural tube closure in head
legs fused together (mermaid syndrome)associated with bladder and kidney problems
intestines herniate through abdominal wall defect, not covered by membranedue to defect in abdominal wall
cystic mass in neckdue to persistence of cervical sinus
absence of sacral, lumbar vertebrae
hands and feet missing digits, have median cleftsdue to loss of AER expression of FGF4 and FGF9
double uterusdue to failure of mullerian duct fusion
multiple little spleens or no spleen at alldue to problems in asymmetric development
extra fingers or toesmany causes

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