National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Craniofrontonasal dysplasia


Other Names:
Craniofrontonasal syndrome; CFNS; CFND; Craniofrontonasal syndrome; CFNS; CFND; Craniofrontonasal dysostosis See More
Categories:
This disease is grouped under:
Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes (strabismus).[1] Other described features include narrow sloping shoulders, malformed bone of the center of the chest (sternum), malformation of the collarbone (clavicle); backward curvature of the spine (lordosis); and/or abnormal lateral curvature of the spine (scoliosis). Several problems leading to asymmetry of the sides of the body have being described, such as asymmetric lengths of the legs or arms, asymmetric breasts, one shoulder that is higher than the other (Sprengel defomity) and absence of the chest wall muscles or bones in one side of the body with abnormally short, webbed fingers on the hand on the same side (Poland syndrome).[2][3]  Females affected with this condition generally have more symptoms than affected males.[1] Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition.[4]
 
Last updated: 6/27/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 67 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Brachycephaly
Short and broad skull
0000248
Craniosynostosis 0001363
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ] 		0000457
Frontal bossing 0002007
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Midline defect of the nose 0004122
Ridged fingernail
Longitudinally grooved fingernails
0008402
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
30%-79% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Brachydactyly
Short fingers or toes
0001156
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ] 		0010059
Camptodactyly of finger
Permanent flexion of the finger
0100490
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Congenital pseudoarthrosis of the clavicle 0006585
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] 		0200021
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Finger syndactyly 0006101
Hand polydactyly
Extra finger
0001161
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Low posterior hairline
Low hairline at back of neck
0002162
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Oral cleft
Cleft of the mouth
0000202
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] 		0001357
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] 		0001852
Scoliosis 0002650
Sensorineural hearing impairment 0000407
Sprengel anomaly
High shoulder blade
0000912
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck
[ more ] 		0000474
Widow's peak
Hairline peak
Hairline point
Pointed hairline at front of head
V-shaped frontal hairline
[ more ] 		0000349
Woolly hair
Kinked hair
0002224
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples
[ more ] 		0006709
Congenital diaphragmatic hernia 0000776
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypospadias 0000047
Pectus excavatum
Funnel chest
0000767
Shawl scrotum
Scrotum surrounds penis
0000049
Percent of people who have these symptoms is not available through HPO
Abnormality of the rib cage 0001547
Agenesis of corpus callosum 0001274
Axillary pterygium 0001060
Bifid nasal tip
Cleft nasal tip
0000456
Breast hypoplasia
Underdeveloped breasts
0003187
Broad hallux
Broad big toe
Wide big toe
[ more ] 		0010055
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Coronal craniosynostosis 0004440
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Exotropia
Outward facing eye ball
0000577
Fragile nails
Brittle nails
0001808
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Hemihypotrophy of lower limb 0200053
Hypoplastic nasal tip
Decreased size of nasal tip
Decreased size of tip of nose
Small nasal tip
Small tip of nose
Underdevelopment of nasal tip
Underdevelopment of tip of nose
[ more ] 		0005278
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ridged nail
Grooved nails
Nail ridging
[ more ] 		0001807
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Split nail
Longitudinal splitting of nail
0001809
Telecanthus
Corners of eye widely separated
0000506
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Umbilical hernia 0001537
Unilateral breast hypoplasia
One underdeveloped breast
0012813
X-linked dominant inheritance 0001423
Showing of 67 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Craniofrontonasal dysplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Craniofrontonasal dysplasia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Could I have gender issues because of craniofrontonasal dysplasia? See answer


  1. Wieacker P, Wieland I. Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Molecular Genetics and Metabolism. 2005; 86:110-116. http://www.ncbi.nlm.nih.gov/pubmed?term=16143553. Accessed 9/23/2015.
  2. Craniofrontonasal Dysplasia. National Organization for Rare Diseases (NORD). 2016; https://rarediseases.org/rare-diseases/craniofrontonasal-dysplasia/.
  3. Elzen MEP van den, Twigg SRF, Goos JAC & cols. Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. European Journal of Human Genetics. 2014; 22:995–1001. https://www.nature.com/articles/ejhg2013273.
  4. Kawamoto HK, Heller JB, Heller MM, Urrego A, Gabbay JS, Wasson KL, Bradley JP. Craniofrontonasal dysplasia: a surgical treatment algorithm. Plastic and Reconstructive Surgery. 2007; 120:1943-1956. http://www.ncbi.nlm.nih.gov/pubmed/18090758. Accessed 9/23/2015.