Carpenter syndrome 2

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 di

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.

Signs and symptoms

• Epicanthus
• Hypertelorism
• Short digit
• Wide intermamillary distance
• Preaxial polydactyly
• Low-set ears
• Cutaneous finger syndactyly
• Brachydactyly
• Supernumerary nipple
• Craniosynostosis