macrosomia-microphthalmia-cleft palate syndrome
Findings
No curated finding names macrosomia-microphthalmia-cleft palate syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
Definition from the Mondo Disease Ontology (MONDO:0009547), read 2026-09-29. CC BY 4.0.
Features
11 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 cranial suture/fontanelle morphologyHPOHP:0000235
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Large for gestational ageHPOHP:0001520
- Very frequent (80% to 99% of cases)
- MicrocorneaHPOHP:0000482
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: macrosomia-microphthalmia-cleft palate syndrome
- Also called
- Teebi-Al Saleh-Hassoon syndrome