Carpenter syndrome 2

Term ID

DOID:0061099

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. https://pubmed.ncbi.nlm.nih.gov/23063620/

References

• MIM:614976

Ontology

Human Disease   ( DOID:0061099 )