obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Findings
No curated finding names obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.
Definition from the Mondo Disease Ontology (MONDO:0019506), read 2026-09-29. CC BY 4.0.
Features
7 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.
- CardiomegalyHPOHP:0001640
- Frequent (30% to 79% of cases)
- ColitisHPOHP:0002583
- Frequent (30% to 79% of cases)
- Congenital hypothyroidismHPOHP:0000851
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypoalbuminemiaHPOHP:0003073
- Frequent (30% to 79% of cases)
- ObesityHPO
Where it sits
- A kind of