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Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
rareLethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
- Identifiers
- MONDO:0014552 OMIM:616258Orphanet:439897
- Causal genes
- KIF14
- Part of
- Meckel syndromeArthrogryposis multiplex congenitaCentral nervous system malformationCongenital nervous system disorderHereditary neurological disease
- Also known as
- Meckel syndrome 12 · Meckel syndrome type 12 · MKS12
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