Disease Profile

Craniofrontonasal dysplasia

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Neonatal

ICD-10

Q87.1

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Craniofrontonasal syndrome; CFNS; CFND;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

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]

Symptoms

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.

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
Abnormal rib cage morphology
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

Diagnosis

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.

    Organizations

    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

      Learn More

      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.

          References

          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. https://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. https://www.ncbi.nlm.nih.gov/pubmed/18090758. Accessed 9/23/2015.