cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Findings
No curated finding names cleft lip/palate-intestinal malrotation-cardiopathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.
Definition from the Mondo Disease Ontology (MONDO:0011008), read 2026-09-29. CC BY 4.0.
Features
14 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- Flat occiputHPOHP:0005469
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th finger
Show the remaining 2
- Intestinal malrotationHPOHP:0002566
- Occasional (5% to 29% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Also called
- McPherson-Clemens syndrome