chondrodysplasia punctata, Toriello type
Findings
No curated finding names chondrodysplasia punctata, Toriello type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.
Definition from the Mondo Disease Ontology (MONDO:0008973), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: chondrodysplasia punctata, Toriello type
- Also called
- Toriello-Higgins-Miller syndrome