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Metadata
ID DOID:0061099
Name Carpenter syndrome 2
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/
Xrefs

MIM:614976

Parent Relationships

is_a Carpenter syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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