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Craniosynostosis-dental anomalies

ORPHA:284149· ICD-10 Q87.0

Definition

A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal