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Disease Profile
Craniofrontonasal dysplasia
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
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 |
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 |
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 |
0006101 | |
Hand |
Extra finger
|
0001161 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
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 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular |
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 |
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 |
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 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 |
0001263 | |
Hemihypotrophy of lower limb | 0200053 | |
Hypoplastic nasal tip |
DiagnosisMaking 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
OrganizationsSupport 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 moreThese 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
In-Depth Information
References
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