microcephaly-cardiac defect-lung malsegmentation syndrome
MONDO:0011050Mondo
Findings
No curated finding names microcephaly-cardiac defect-lung malsegmentation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Definition from the Mondo Disease Ontology (MONDO:0011050), read 2026-09-29. CC BY 4.0.
Features
23 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.
- Abnormal lung lobationHPOHP:0002101
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Ventricular septal defectHPOHP:0001629
- Very frequent (80% to 99% of cases)
- Abnormal aortic morphologyHPOHP:0001679
- Frequent (30% to 79% of cases)
- Abnormal periauricular region morphologyHPOHP:0000383
- Frequent (30% to 79% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- High, narrow palateHPOHP:0002705
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Show the remaining 11
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Preauricular pitHPOHP:0004467
- Frequent (30% to 79% of cases)
- Renal agenesisHPOHP:0000104
- Frequent (30% to 79% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Frequent (30% to 79% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: microcephaly-cardiac defect-lung malsegmentation syndrome
- Also called
- Ellis-Yale-Winter syndrome