Living with Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
A rare inherited condition affecting the brain, kidneys, and genitals and urinary tract, starting before birth.
Understanding Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
It involves slow growth before birth, bent and fixed joints, a very small head, and kidney differences. The brain has many differences, and the genital and urinary organs may be underdeveloped or missing. It is noticed during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small head (microcephaly)
- Missing or underdeveloped parts of the brain
- Missing kidneys (bilateral renal agenesis)
- Joint contractures (arthrogryposis)
- Small lower jaw (micrognathia)
- Low amniotic fluid
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in KIF14 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the KIF14 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome; meckel syndrome 12; meckel syndrome type 12
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome.
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