Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is an extremely rare and severe condition that affects babies before birth. The name describes the main features: problems with the brain (cerebro-), kidneys (reno-), and the reproductive and urinary organs (genitourinary). In this syndrome, these organs either fail to develop at all (agenesis) or develop in a very incomplete way (hypoplasia). Because so many vital organs are affected at the same time, the condition is considered lethal, meaning it is not compatible with life outside the womb or results in death very shortly after birth. Babies with this syndrome typically show severe abnormalities on prenatal ultrasound, including absent or very small kidneys, abnormal brain development, and missing or underdeveloped reproductive and urinary structures. The lack of functioning kidneys means the baby produces little or no urine, which leads to very low amniotic fluid (a condition called oligohydramnios or anhydramnios). This in turn causes further problems with lung development, making survival after birth extremely unlikely. Because this condition is so rare and so severe, there is currently no treatment that can correct the underlying problems. Care is focused on supporting families through the diagnosis, providing accurate information, and offering compassionate end-of-life planning. Genetic counseling is an important part of care for families who have experienced this condition, as understanding the cause may help assess the risk for future pregnancies.

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

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Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest

Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)

Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

Bring these to your next appointment

• Q1.What specific organs are affected in my baby, and how severe are the abnormalities?,What genetic tests are available to find out why this happened, and how long will results take?,What is the chance that this could happen again in a future pregnancy?,What are my options for the remainder of this pregnancy, and what does comfort care for my baby look like?,Can you refer me to a genetic counselor and a grief support specialist?,Are there any research studies or registries I could participate in to help other families in the future?,What support services are available for me and my family after the loss?

Common questions about Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Related conditions

Other rare diseases commonly researched alongside Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome.

• Bardet-Biedl syndrome→
• Fraser syndrome→