Cole-Carpenter syndrome
An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
MONDO:0019019
osteogenesis imperfecta
excluded_subClassOf
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018230
skeletal dysplasia
is_a
Cole Carpenter syndrome
related
bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
exact
SPBC4.03c SPAC1F5.02