Last updated 2mo ago
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A second trimester ultrasound shows enlarged echogenic kidneys, occipital encephalocele, and postaxial polydactyly. Oligohydramnios is noted.
AR; ciliopathy genes (MKS1, MKS3/TMEM67, CEP290, others)
- Classic triad:
- Occipital encephalocele
- Polycystic kidneys (bilateral, enlarged)
- Postaxial polydactyly
- Oligohydramnios (due to renal failure)
- Lethal (usually in utero or neonatal)
- Allelic to Joubert syndrome (milder)
- Prenatal ultrasound: enlarged echogenic/cystic kidneys, occipital encephalocele, and postaxial polydactyly, often with oligohydramnios
- Fetal MRI can further characterize the CNS malformation
- Confirm with molecular testing of the ciliopathy genes (MKS1, TMEM67, CEP290, and others); identifying the variants enables prenatal/preimplantation testing in future pregnancies
- AR inheritance: 25% recurrence risk; offer carrier testing to the parents
- Supportive
"MECKEL": Microcephaly, occipital Encephalocele, Cystic Kidneys, Extra Little digit (postaxial polydactyly, next to the pinky, the "littlest digit")