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

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