Conditions / Syndrome
craniofrontonasal syndrome
info · Syndrome
A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal t
A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.
Signs and symptoms
- Hypertelorism
- Facial asymmetry
- Abnormality of the dentition
- Toe syndactyly
- Short stature
- Coronal craniosynostosis
- Hypotonia
- Generalized hypotonia
- Split nail
- Fragile nails
Also known as: CFND; CFNS; craniofrontonasal dysostosis; craniofrontonasal dysplasia