Snapshot A baby boy is born with microphthalmia, microcephaly, cleft lip and palate, polydactyly, low-set ears, and "punched out" scalp lesions. Imaging confirms holoprosencephaly. Introduction Relatively common genetic abnormality, but less so than Down and Edward's syndrome Characterized by Trisomy 13, partial trisomy of chromosome 13, or translocation Not thought to be inherited, but caused by malformation of sperm or egg during meiosis Associated with development of multiple comorbidites including congenital heart disease cleft lip and palate are common Epidemiology occurs in 1:10000 birth more frequently observed in males > females (3:1) Presentation Symptoms range widely depending on severity of the abnormality Physical exam very similar to Edward's syndrome with findings indicative of syndrome including severe mental retardation microphthalmia microcephaly micrognathia cleft lip/palate clenched hands with overlapping fingers decreased muscle tone abnormal forebrain structures holoprosencephaly polydactyly cryptorchidism congenital heart disease "punched out" lesions of the scalp (missing skin) Evaluation Genetic testing can be used to confirm diagnosis and establish specific chromosomal abnormality i.e. Trisomy 13 versus chromosomal translocation or mosaicism Echocardiogram to assess for structural heart defects EKG to assess for cardiac conduction abnormalities Amniocentesis amniotic fluid sample is obtained with fine needle through the abdomen and uterus performed during 15th week of pregnancy or later less risk to child than chorionic villus sampling usually indicated in mothers > 35 years old Chorionic villus sampling (CVS) placental tissue sample is retrieved via vagina and cervix usually performed between 10th-12th week of pregnancy more risk to child, but can be performed earlier usually indicated in mothers > 35 years of age Differential Other congenital genetic abnormalities including Down syndrome, Edward's syndrome, and the like Treatment Medical management there is no cure for Patau's syndrome treatment is therefore guided on a case-by-case basis depending on sequelae frequent screening eye exam every year in infancy hearing tests every 6-12 months dental exams every 6 months cervical spine x-rays around age 3-5 years Pap smears/pelvic exams beginning age 21 thyroid testing every 12 months treat associated pathology congenital heart disease mental retardation Prognosis, Prevention, and Comlications Prognosis most cases do not survive past one year of life some less severe cases do survive in early childhood and beyond, though rare Prevention there are no known preventive measures for Patau's syndrome selective pregnancy termination has been employed following amnio/CVS Complications congenital heart disease, blindness, severe mental retardation may complicate survival