| Term Name: | Carpenter syndrome 2 | 
|---|---|
| Synonyms: | |
| Definition: | A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. | 
| Ontology: | Human Disease [DOID:0061099] ( DOID:0061099 ) |