Cole–Carpenter syndrome

Cole–Carpenter syndrome
Autosomal recessive pattern is the inheritance manner of this condition.
SpecialtyMedical genetics

Cole–Carpenter syndrome is an extremely rare autosomal recessive or dominant genetic condition in humans. The condition affects less than 10 people worldwide.[1] It is characterised by craniofacial abnormalities, dysmorphic body features and an increased risk of bone fractures.

  1. ^ Cole DEC, Carpenter, TO (1987) Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediat 110: 76-80
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