Craniofrontonasal Dysplasia also known as Craniofrontonasal Syndrome or CFND. The most common symptoms of this disorder include widely spaced eyes (ocular hypertelorism), a vertical groove (cleft) on the tip of the nose, shoulder and limb abnormalities and/or underdevelopment of the middle portion of the face (e.g., forehead, nose, and/or chin). The head typically has an unusual shape due to premature closure of the fibrous joints (sutures) between certain bones in the skull (coronal synostosis) resulting in facial asymmetry. Females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
A large majority of children are first diagnosed with a unilateral coronal craniosynostosis and further diagnosed with craniofrontonasal dysplasia.
Genetic testing may or may not be done.
The treatment of craniofrontonasal dysplasia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals, such as craniofacial surgeon, neurosurgeon; specialists who diagnose and treat abnormalities of the skeleton, joints, muscles, and related tissues (orthopedists); physicians who specialize in neurological disorders (neurologists); eye specialists (ophthalmologists); and/or other health care professionals.
Treatments vary and it is important that you seek out a qualified multidisciplinary team to treat your child. Typically treatment will be a carefully staged surgical plan and one that you want to prepare for. It is important that you weigh your options and cappskids will help you do that.
You can use our image share platform to upload your child’s CT scans and photos and request a remote consultation or second opinion here.
We have created a portion of our directory that can help you identify teams that we have referred CFND families to in the past and those that have experience treating this here.
CFND is an X-linked disorder caused by a mutation in the EFNB1 gene. There have been at least 33 different mutations of the EFNB1 gene identified. All daughters of affected males are affected, consistent with X-linked inheritance.
- Aarskog syndrome
- Frontofacionasal dysplasia
- Greig cephalopolysyndactyly syndrome (GCPS)
- Frontonasal dysplasia, also known as median cleft face syndrome
- Orocraniodigital syndrome
There are many other rare craniofacial disorders that are characterized by facial abnormalities similar to those of CFND.
A diagnosis of CFND may be suspected after a thorough clinical evaluation and characteristic physical findings. Molecular genetic testing for mutations in the EFNB1gene is available to confirm the diagnosis. CFND can sometimes be detected before birth (prenatally) by ultrasound.