iniencephaly
MONDO:0018968Mondo
Findings
No curated finding names iniencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.
Definition from the Mondo Disease Ontology (MONDO:0018968), read 2026-09-29. CC BY 4.0.
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- RhizomeliaHPOHP:0008905
- Very frequent (80% to 99% of cases)
- Spinal dysraphismHPOHP:0010301
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Absent vertebraHPOHP:0008465
- Frequent (30% to 79% of cases)
- AnencephalyHPOHP:0002323
- Frequent (30% to 79% of cases)
- GastroschisisHPOHP:0001543
- Frequent (30% to 79% of cases)
- HoloprosencephalyHPOHP:0001360
- Frequent (30% to 79% of cases)
- HyperlordosisHPOHP:0003307
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Mandibular aplasiaHPOHP:0009939
- Frequent (30% to 79% of cases)
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
Show the remaining 19
- Rocker bottom footHPOHP:0001838
- Frequent (30% to 79% of cases)
- Spina bifidaHPOHP:0002414
- Frequent (30% to 79% of cases)
- Abnormal occipital bone morphologyHPOHP:0012294
- Occasional (5% to 29% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Occasional (5% to 29% of cases)
- Anal atresiaHPOHP:0002023
- Occasional (5% to 29% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
- Narrower terms (2)