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 )

Relationships
is a type of: autosomal recessive disease Carpenter syndrome