autosomal recessive craniometaphyseal dysplasia

A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.

Signs and symptoms

• Facial hyperostosis
• Hypertelorism
• Depressed nasal ridge
• Broad alveolar ridges
• Flared metaphysis
• Facial palsy
• Wide nasal bridge
• Coarse facial features
• Metaphyseal dysplasia
• Abnormal nasopharynx morphology