short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1

Term ID

DOID:0060989

Synonyms

Definition

A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/29198724/

References

• MIM:617877

Ontology

Human Disease   ( DOID:0060989 )